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EDITORS

Mitchell S. Fineman, MD
Associate Professor of Ophthalmology
Thomas Jefferson University
Attending Surgeon
Wills Eye Institute
Philadelphia, Pennsylvania

Allen C. Ho, MD
Professor of Ophthalmology
Thomas Jefferson University
Attending Surgeon
Wills Eye Institute
Philadelphia, Pennsylvania

SECTION EDITORS

Gary C. Brown, MD
Franco M. Recchia, MD
Carl D. Regillo, MD
James F. Vander, MD

SERIES EDITOR

Christopher J. Rapuano, MD
Director and Attending Surgeon, Cornea Service
Co-Director, Refractive Surgery Department
Wills Eye Institute
Professor of Ophthalmology
Jefferson Medical College of Thomas Jefferson University
Philadelphia, Pennsylvania

Senior Executive Editor: Jona han W. Pine, Jr.


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Prin ed in China
Library of Congress Cataloging-in-Publication Data
Re ina / edi ors, Mi chell S. Fineman, Allen C. Ho. 2nd ed.
p. ; cm. (Color a las & synopsis o clinical
oph halmology-Wills Eye Ins i u e)
Includes bibliographical re erences and index.
ISBN 978-1-60913-336-8 (pbk. : alk. paper)
I. Fineman, Mi chell S. II. Ho, Allen C. III. Wills Eye Hospi al
(Philadelphia, Pa.) IV. Series: Color a las and synopsis o clinical
oph halmology series.
[DNLM: 1. Re inal DiseasesA lases. WW 17]
617.7 35dc23
2011052818
Care has been aken o con rm he accuracy o he in orma ion presen ed and o describe generally accep ed prac ices. However, he au hors, edi ors, and publisher are no responsible or errors or omissions or
or any consequences rom applica ion o he in orma ion in his book and make no warran y, expressed or
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in orma ion rela ing o drug herapy and drug reac ions, he reader is urged o check he package inser
or each drug or any change in indica ions and dosage and or added warnings and precau ions. T is is
par icularly impor an when he recommended agen is a new or in requen ly employed drug.
Some drugs and medical devices presen ed in he publica ion have Food and Drug Adminis ra ion
(FDA) clearance or limi ed use in res ric ed research set ings. I is he responsibili y o he heal h care
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T is edition is dedicated in memory o our colleague and mentor,


J. Arch McNamara (19552010), whose clinical skills and passion
or teaching will be missed by all who knew him, were inspired by
him, and had the pleasure o his f iendship.

Edi ors
SERIES EDI OR

SEC ION EDI ORS

Christopher J. Rapuano, MD
Direc or and At ending Surgeon, Cornea Service
Co-Direc or, Re rac ive Surgery Depar men
Wills Eye Ins i u e
Pro essor o Oph halmology
Je erson Medical College o T omas Je erson
Universi y
Philadelphia, Pennsylvania

Gary C. Brown, MD
Pro essor o Oph halmology
T omas Je erson Universi y
Direc or, Re ina Service
Wills Eye Ins i u e
Philadelphia, Pennsylvania

EDI ORS
Mitchell S. Fineman, MD
Associa e Pro essor o Oph halmology
T omas Je erson Universi y
At ending Surgeon
Wills Eye Ins i u e
Philadelphia, Pennsylvania
Allen C. Ho, MD
Pro essor o Oph halmology
T omas Je erson Universi y
At ending Surgeon
Wills Eye Ins i u e
Philadelphia, Pennsylvania

vi

Franco M. Recchia, MD
Associa e Pro essor o Oph halmology and
Visual Sciences
Vanderbil Universi y School o Medicine
Nashville, ennessee
Carl D. Regillo, MD
Pro essor o Oph halmology
T omas Je erson Universi y
Direc or, Clinical Re ina Research
Wills Eye Ins i u e
Philadelphia, Pennsylvania
James F. Vander, MD
Pro essor o Oph halmology
T omas Je erson Universi y
At ending Surgeon
Wills Eye Ins i u e
Philadelphia, Pennsylvania

Con ribu ors


J. Luigi Borrillo, MD
Nor hern Cali ornia Re ina Vi reous Associa es
Medical Group
San Ma eo, Cali ornia

Nikolas J.S. London, MD


Fellow, Vi reore inal Surgery
Wills Eye Ins i u e
Philadelphia, Pennsylvania

Richard S. Kaiser, MD
Associa e Pro essor o Oph halmology
T omas Je erson Universi y
At ending Surgeon
Wills Eye Ins i u e
Philadelphia, Pennsylvania

Mithlesh C. Sharma, MD
At ending Vi reore inal Surgeon
Kaiser Permanen e Medical Group
Roseville, Cali ornia

vii

Abou he Series
he beau y o he a las/ synopsis concep
is he power ul combina ion o illus raive pho ographs and a summary approach
o he ex . Oph halmology is a very visual
discipline ha lends i sel nicely o clinical
pho ographs. Al hough he seven oph halmic subspecial ies in his seriesCornea,
Re ina, Glaucoma, Oculoplas ics, NeuroOph halmology, Pedia rics, and Uvei isuse
varying levels o visual recogni ion, a rela ively
s andard orma or he ex is used or all

viii

volumes. T e goal o he series is o provide an


up- o-da e clinical overview o he major areas
o oph halmology or s uden s, residen s, and
prac i ioners in all o he heal h care pro essions. T e abundance o large, excellen quali y pho ographs and concise, ou line- orm ex
will help achieve ha objec ive.
Chris opher J. Rapuano, MD
Series Editor

Pre ace

i reore inal disease is a privileged visual


discipline. T ere are signi can barriers o i s s udy beyond he cons ric ed pupil.
Oph halmology rainees rs acquire he
observa ional skills and acili y wi h diagnosic ins rumen a ion such as he sli lamp biomicroscope and he indirec oph halmoscope
o begin o explore diseases ha a ec he
pos erior segmen o he eye. I akes clinical
experience o discern normal varia ion rom
signi can pa hology. Un or una ely, mos
nonoph halmic physicians are limi ed o acili y wi h he direc oph halmoscope ha only
a ords a keyhole view o he back o he eye.
We are privileged o be li elong s uden s,
prac i ioners, clinical researchers and eachers o his aspec o he eye here a Wills Eye
Hospi al.
When we were asked o crea e a concise color
a las and synopsis o vi reore inal disease we
knew our challenges would be o be concise
and o be selec ive since here is grea richness o clinical de ail, bo h visually and wi h
words. Our aim was o balance he bread h
o he subjec ma erial wi h enough ocused
de ail o provide he ramework o our hinking regarding impor an clinical signs, associa ed clinical signs, di eren ial diagnosis,
diagnos ic evalua ion, and prognosis and
managemen o hundreds o vi reore inal
condi ions. We wan his o be a go o eld

manual bu realize ha i canno be an encyclopedic re erence.


T e images o his color a las and synopsis
include over 300 color images and over 100
black and whi e images, ypically uorescein
angiographic images. Each was digi ized rom
an original pho ographic slide as a high resoluion RGB image, a leas 1500 pixels by 1200
pixels. Our goals were o presen he images in
heir highes quali y na ive colors and con ras s,
o limi pho ographic ar i ac , and o highligh
cer ain clinical ea ures o he images wi h annoa ions or image inse s. Every e or was made
o main ain he in egri y o he original pho ographs, wi h requen re erence o he original
source. Image enhancemen was reserved only
or he selec ed image inse s o his work, in
cases where we el par icular ea ures could be
bet er illus ra ed wi h digi al manipula ion. We
o en magni ed ( hough a no ime was in erpola ion used o crea e new pixels) he inse s,
made hem grayscale, and increased he conras or he ease o he reader.
Ul ima ely, our in en is o presen his color
a las and synopsis as an aid o he diagnosis
and managemen o vi reore inal diseases in
he care o pa ien s and as a resource or s uden s o hese condi ions.
Mi chell C. Fineman, MD
Allen C. Ho, MD
Editors

ix

Acknowledgmen s

ra e ul acknowledgmen is given o hese consul an s or heir e or s and exper ise in


imaging and or heir con ribu ions o his publica ion:

Ms. S e anie Carey, BS


Ms. Donna Galloway
Ms. Saman ha Groch
Ms. MaryAnn Jay
Jay Klancnik, MD

Ms. Lisa Lave sky


Henry C. Lee, MD
Ms. Elaine Liebenbaum, BS
Ms. Michele Skibo
Ms. Kris en Winkelspech

Con en s
Edi ors vi
Con ribu ors vii
Abou he Series viii
Pre ace ix
Acknowledgmen s x

Ch a pt er 1 Age-Related Macular Degeneration 1


Allen C. Ho
Dry or Nonexuda ive Age-Rela ed Macular Degenera ion
Exuda ive Age-Rela ed Macular Degenera ion 17

Ch a pt er 2 Macular Diseases 44
Nikolas J.S. London and Mitchell S. Fineman
Macular Epire inal Membrane 44
Idiopa hic Macular Hole 49
Vi reomacular rac ion Syndrome 58
Cys oid Macular Edema 60
Polypoidal Choroidal Vasculopa hy 64
Degenera ive Myopia 67
Angioid S reaks 72
Cen ral Serous Re inopa hy 78
Choroidal Folds
89
Hypo ony Maculopa hy 92

Ch a pt er 3 Diabetic Retinopathy 94
James F. Vander
Diabe ic Re inopa hy 94
Nonproli era ive Diabe ic Re inopa hy 95
Proli era ive Diabe ic Re inopa hy 112
Diabe ic Papillopa hy 132

Ch a pt er 4 Retinal Vascular Disease

133

Gary C. Brown
Cot on-Wool Spo s 133
Hyper ensive Re inopa hy 136
Ciliore inal Ar ery Obs ruc ion (Occlusion) 142
Branch Re inal Ar ery Obs ruc ion (Occlusion) 145
Cen ral Re inal Ar ery Obs ruc ion (Occlusion) 149
Acu e Oph halmic Ar ery Obs ruc ion (Occlusion) 153
Combined Cen ral Re inal Ar ery and Vein Obs ruc ion (Occlusion)
Ocular Ischemic Syndrome 158
Branch Re inal Vein Obs ruc ion (Occlusion) 163
Cen ral Re inal Vein Obs ruc ion (Occlusion) 166
Re inal Ar erial Macroaneurysm 172

156

xi

xii

CO NTENTS

Para oveal elangiec asis 175


Sickle Cell Re inopa hy 178
Radia ion Re inopa hy 182
Lipemia Re inalis 187

Ch a pt er 5 Retinal Degenerations and Dystrophies 189


Mithlesh C. Sharma and Allen C. Ho
Bes s Disease 189
Cone Dys rophy 195
Pat ern Dys rophy 198
S argard s Disease 203
Choroideremia 210
Gyra e A rophy 215
Congeni al S a ionary Nigh Blindness 219
Albinism 223
Re ini is Pigmen osa 228
Sys emic Diseases Associa ed wi h Re ini is Pigmen osa 233
Carcinoma-Associa ed Re inopa hy Syndrome 236

Ch a pt er 6 Retinal and Choroidal umors 240


Franco M. Recchia
As rocy ic Hamar oma 240
Re inoblas oma 243
Re inal Capillary Hemangioma 247
Re inal Cavernous Hemangioma 250
Congeni al Hyper rophy o he Re inal Pigmen Epi helium 252
Combined Hamar oma o he Re ina and Re inal Pigmen Epi helium 255
Choroidal Nevus 257
Choroidal Melanoma 259
Choroidal Melanocy oma 262
Choroidal Me as asis 264
Choroidal Hemangioma 267
In raocular Lymphoma 269
Choroidal Os eoma 271

Ch a pt er 7 Congenital and Pediatric


Retinal Diseases 273
Nikolas J.S. London and Richard S. Kaiser
Re inopa hy o Prema uri y 273
Incon inen ia Pigmen i 284
Familial Exuda ive Vi reore inopa hy 289
Coa s Disease 294
Choriore inal Coloboma 300
Persis en Hyperplas ic Primary Vi reous/ Persis en Fe al Vascula ure 304
Juvenile X-Linked Re inoschisis 307
Lebers Congeni al Amaurosis 312

CO NTENTS

Ch a pt er 8

raumatic and oxic Retinopathies 314

J. Luigi Borrillo and Carl D. Regillo


Commo io Re inae 314
Choroidal Rup ure 316
Avulsed Vi reous Base 318
Solar Maculopa hy 319
Valsalva Re inopa hy 321
Shaken Baby Syndrome 323
ersons Syndrome 325
Pur schers Re inopa hy 327
rauma ic Macular Hole 329
Choriore ini is Sclope aria 331
In raocular Foreign Body 333
Disloca ed Lens 336
alc Re inopa hy 338
Chloroquine or Hydroxychloroquine Re inopa hy 341
T ioridazine Re inopa hy 343

Ch a pt er 9 Peripheral Retinal Disease

346

James F. Vander
Re inal Break or ear 346
Rhegma ogenous Re inal De achmen 357
Proli era ive Vi reore inopa hy 366
Lat ice Degenera ion 372
Vi reore inal u and Meridional Fold 374
Cobbles one Degenera ion 376
Peripheral Grouped Pigmen a ion 378
Degenera ive Re inoschisis 380
Exuda ive Re inal De achmen 383
Choroidal De achmen 386

Index 389

xiii

C H AP

ER

Age-Rela ed Macular
Degenera ion
Allen C. Ho

ge-rela ed macular degenera ion (AMD)


describes a common degenera ive condi ion o he re ina ha may a ec cen ral
vision. By def ni ion, i occurs in individuals 50 years and older and is more prevalen
wi h increasing age. Popula ion-based surveys
in he Wes ern world vary bu es ima e he
prevalence o AMD o be approxima ely 10%
o 35% in individuals over he age o 50 years.
AMD is divided in o dry or nonexuda ive
AMD and we or exuda ive AMD.

DRY
D
RY O R N O N EX
EXUDA
XU DA
A IIVE
VE
E
AGE-RELA
A
GE-R
R EL
L A ED M
MACULAR
AC UL
L AR
R
DEGEN
D
EGE
EN E
ERA
R A IIO
ON

rusen are he clinical hallmark o dry


AMD. T ey are subre inal pigmen epihelial deposi s be ween he basemen membrane o he re inal pigmen epi helium (RPE)
and Bruchs membrane (Figs. 1-1 and 1-2) or
wi hin Bruchs membrane i sel . Mul iple ypes
o drusen have been described, including large
drusen (grea er han 64 m); small drusen

(63 m or smaller); calcif ed drusen, which are


yellow and glis ening; and basal laminar drusen, which are small round di use drusen ha
are more apparen on uorescein angiography
han on clinical undus examina ion (Fig. 1-3).
Mul iple large drusen are represen a ive o a
di use hickening o Bruchs membrane. Large
drusen, also known as so drusen, are a risk acor or more advanced AMD and vision loss.
Small (also known as hard) drusen alone do
no increase he risk or more advanced orms
o AMD (Fig. 1-4).
Re inal pigmen epi helial abnormaliies, including nongeographic a rophy, ocal
hyperpigmen a ion, and rank geographic
a rophy, are also common undus ea ures
o dry AMD (Fig. 1-5). Granulari y o he
RPE may be an early ea ure o re inal pigmen epi helial dis urbance due o AMD.
T is may progress o areas o nongeographic
a rophy (Fig. 1-6) in which here is loss o
pigmen o he RPE, bu his is no discre e,
and underlying choroidal vessels are no
apparen . Geographic a rophy comprises discre e loss o RPE in a so-called cookie-cut er
ashion wi h a minimal diame er o 250 m
1

1 AGE-RELA ED MACULAR DEGENERA IO N

associa ed wi h underlying loss o choroidal


s romal pigmen and clearly visible underlying larger choroidal vessels (Fig. 1-7).

EPIDEMIOLOGY AND
ETIOLO GY
Drusen are seen increasingly wi h advancing age and ypically are presen in he six h
decade o li e or la er. Popula ion-based s udies es ima e approxima ely 10% prevalence
o early AMD (drusen) in he f h decade o
li e, increasing o 35% in he seven h decade.
Drusen may be seen in younger pa ien s and
may be heri able in hese cases.
T e precise source o drusen ma erial is no
comple ely unders ood, bu hey are hough
o represen degenera ive produc s o re inal
pigmen epi helial cells; hey are composed o
lipids and glycopro eins, and may be mineralized. Re inal pigmen epi helial al era ions are
seen increasingly wi h age and are common in
he seven h, eigh h, and nin h decades o li e.

PATHOLO GY
ransmission elec ron microscopy o eyes
wi h drusen and dry AMD shows wo ypes
o deposi s:
Basal laminar deposi s consis o widespaced collagen localized be ween he re inal pigmen epi helial plasma membrane
and he re inal pigmen epi helial basemen membrane.
Basal linear deposi s consis o lipid-rich
ma erial ex ernal o he basemen membrane o he RPE in he inner collagenous
zone o Bruchs membrane.

HISTORY
Pa ien s wi h drusen may be visually
asymp oma ic. Pa ien s wi h mul iple drusen

and associa ed re inal pigmen epi helial


abnormali ies including granulari y o he
RPE, a rophy o he RPE, or ocal hyperpigmen a ion will o en no e uc ua ing vision,
including cen ral blurring. T ey ypically will
describe a need or increased ligh in ensi y
in order o read and have di cul y adap ing
be ween di eren ligh ing.
Pa ien s wi h dry AMD and wi hou evidence o geographic a rophy o he RPE or
exuda ive AMD ypically have good cen ral
vision be ween 20/ 20 and 20/ 60.

CLINICAL AND
FLUORESCEIN
ANGIO GRAPHIC SIGNS
Fundus biomicroscopy shows subre inal
pale yellow deposi s ha may vary in size rom
grea er han 64 m (large drusen) o small or
hard drusen (63 m or smaller) in diame er.
Calcif c drusen have a glis ening appearance,
and mos pa ien s wi h AMD have a mix ure o
clinical drusen ypes. Large drusen will o en
become con uen in o larger drusenoid pigmen epi helial de achmen s. Drusen should
be considered uid and dynamic s ruc ures
ha can appear or resolve over ime (Fig. 1-8).
An irregular granular appearance o he
RPE is o en seen in associa ion wi h drusen.
Areas o nongeographic a rophy or rank geographic a rophy are o en apprecia ed a er he
spon aneous resolu ion o drusen and, in paricular, drusenoid pigmen epi helial de achmen s. In rare inal pigmen clumps or ocal
hyperpigmen a ion represen s advanced re inal pigmen epi helial degenera ion as well.
Fluorescein angiography ypically demons ra es a pa chy hyper- and hypo uorescence
wi hou leakage o dye. Drusen may show
early or la e hyper uorescence, depending
on he in egri y o he overlying RPE and
he his ochemis ry o he drusen hemselves. Large so drusen ypically show early

Dry or Nonexudative Age Related Macular Degeneration

hypo uorescence and la e hyper uorescence


(Fig. 1-9). T is angiographic pat ern is inconsis en , however, because some drusen, even
hose ha are large, will show earlier hyperuorescence (Fig. 1-10). Geographic a rophy
shows discre e hyper uorescence wi h s able
boundaries hroughou he angiogram
(Fig. 1-11).

ASSO CIATED CLINICAL


SIGNS
When drusen are no ed in pa ien s over
he age o 50, o her ea ures o AMD are o en
observed, including granulari y and a rophy
o he RPE. Drusen ha are associa ed wi h
subre inal uid, hemorrhage, or lipid exudaion due o choroidal neovasculariza ion
(CNV) are charac eris ics o exuda ive AMD.

DIFFERENTIAL DIAGNOSIS
Drusen are subre inal and should be disinguished rom in rare inal processes such as
in rare inal lipid, re inal emboli, and cot onwool spo s. T e borders o drusen may be
more dis inc in smaller hard drusen and less
dis inc wi h large drusen.
O her yellow macular lesions can be
included in he di eren ial diagnosis o drusen, including he ollowing:
Pat ern dys rophy: Presen s in younger
pa ien s; lesions show geographic shape.
Bes s disease: Round or oval lesions
may show di eren s ages.
Adul oveomacular dys rophy:
Yellowish green sub oveal lesion; may simula e CNV on uorescein angiography.

be evalua ed wi h uorescein angiography o


rule ou exuda ive AMD.
Care ul undus biomicroscopy is imporan o rule ou sub le signs o exuda ive
AMD.
Op ical coherence omography (OC ) is
an essen ial diagnos ic ool in he evalua ion
o AMD pa ien s and can help es ablish he
presence o early exuda ive AMD and help
de ermine he response o herapy.

PROGNOSIS AND
MANAGEMENT
Pa ien s wi h drusen are counseled ha
hey have he dry orm o AMD and ha
mos pa ien s wi h drusen will no develop
vision loss due o more advanced orms o
AMD (exuda ive AMD and CNV or geographic a rophy). Pa ien s wi h mul iple
large drusen are a a higher risk o developing CNV, par icularly i he ellow eye has
previously developed exuda ive AMD
( able 1-1). T e 5-year risk o developing
CNV in ellow eyes o pa ien s wi h exudaive AMD ranges be ween 40% and 85%.
Managemen includes counseling regarding
he impor ance o moni oring cen ral vision
in each eye wi h a es objec such as he
Amsler grid (Fig. 1-12).
TABLE 1-1. Risk o Choroidal
Neovasculariza ion (CNV) or Eyes wi h
Drusen (Fellow Eye wi h Exuda ive CNV)
Overall estimate is 10%of patients per year with
unilateral drusen will develop CNV. T e Macular
Photocoagulation Study Group has established risk
factors that increase the risk of CNV:
Multiple large drusen

DIAGNOSTIC EVALUATION
Pa ien s wi h a sudden change in vision or
new blur or dis or ion o cen ral vision may

Focal hyperpigmentation
Hypertension
Smoking

1 AGE-RELA ED MACULAR DEGENERA IO N

In orma ion rom he age-rela ed eye


disease s udy (AREDS) demons ra es ha
micronu rien and an ioxidan supplemen aion (vi amin C, 500 mg; vi amin E, 400 IU;
be a caro ene, 15 mg; zinc, 80 mg as zinc
oxide; and copper, 2 mg as cupric oxide)
can e ec a modes bu def ni e reduc ion in
clinical progression o AMD and modera e
visual loss in pa ien s wi h dry AMD and
a leas one large druse o 125 m or larger.
Da a were no signif can or pa ien s wi h
mild or borderline dry AMD (mul iple small
drusen or nonex ensive in ermedia e drusen
o 63 o 124 m, pigmen abnormali ies, or
any combina ion o hese).
Pa ien s wi h ocal hyperpigmen aion have a higher risk o developing more
advanced orms o AMD associa ed wi h
vision loss and, in par icular, CNV. Some

believe ha his clinical ea ure may represen


a sign o early, ill-def ned CNV in many cases.
I here is a suspicion o early exuda ive AMD,
hen uorescein angiography and OC imaging may be per ormed. Since early re inal pigmen epi helial abnormali ies and granulari y
o he RPE may lead o nongeographic a rophy and rank geographic a rophy, hey may
be harbingers o vision loss.
T ere are numerous clinical rials invesiga ing po en ial herapies or dry AMD
including o her nu ri ional supplemen s such
as omega 3 at y acids, lu ein and zeaxan hin
caro enoids (AREDS 2 S udy), visual cycle
inhibi ors, an i-in amma ory or complemen
inhibi ors and s em cell herapies. An in raocular implan able elescope has been approved
or pa ien s wi h geographic a rophy based on
clinical rial evidence.

Dry or Nonexudative Age Related Macular Degeneration

FIGURE 1-1. Large drusen. A. Fundus pho ograph demons ra ing predominan ly large drusen, some o which
are conf uen (inse ) . Visual acui y was 20/ 25. B and C. Red ree undus image and OC image o drusen a he
level o Bruchs membrane and he re inal pigmen epi helium. No e he irregular eleva ion o he re inal pigmen
epi helium caused by drusen.

1 AGE-RELA ED MACULAR DEGENERA IO N

FIGURE 1-2. Conf uent drusen. Fundus pho ograph demons ra ing mul iple large, predominan ly conf uen
drusen. Conf uence is grea es emporal o he ovea. Conf uen drusen are a risk ac or or exuda ive age rela ed
macular degenera ion (AMD) .

FIGURE 1-3. Basal laminar drusen. Fundus pho ograph demons ra ing mul iple small, round, di use drusen
(inse ) wi h large areas o conf uence in he pos erior pole and midperipheral re ina. Basal laminar drusen may be
more apparen wi h f uorescein angiography han clinically.

Dry or Nonexudative Age Related Macular Degeneration

FIGURE 1-4. Hard drusen. Hard drusen (inse ) are small ( 63 m or smaller) and are no a risk ac or or more
advanced orms o AMD.

FIGURE 1-5. Focal hyperpigmentation. Fundus pho ograph showing mul iple drusen wi h re inal pigmen
epi helial al era ions (inse ) . Focal hyperpigmen a ion is no ed in he ovea and jus nasal o he ovea. Focal
hyperpigmen a ion is a risk ac or or more advanced orms o AMD associa ed wi h vision loss.

1 AGE-RELA ED MACULAR DEGENERA IO N

B
FIGURE 1-6. Nongeographic atrophy. A. Mul iple large drusen are no ed and here are areas o re inal
pigmen epi helial al era ions. Surrounding he ovea superiorly and emporally are wo areas o nongeographic
a rophy. T ere is hinning o he re inal pigmen epi helium (RPE) , bu he borders are no discre e around he
en ire lesion and he underlying larger choroidal vessels are no visible a his ime. B. Fluorescein angiogram
demons ra ing ransmission hyperf uorescence in nongeographic a rophy. La er images do no demons ra e
leakage.

Dry or Nonexudative Age Related Macular Degeneration

FIGURE 1-7. End stage geographic atrophy. Large geographic a rophy involving he ovea. No e he visibili y
o he underlying larger choroidal vessels. Visual acui y was coun ing ngers.

10

1 AGE-RELA ED MACULAR DEGENERA IO N

B
FIGURE 1-8. Drusenoid pigment epithelial detachment. A. Righ eye o a pa ien showing large conf uen
drusen in a drusenoid pigmen epi helial de achmen con gura ion. T ere is ocal hyperpigmen a ion cen ered
on he ovea. Visual acui y was 20/ 40. B. Le eye o he same pa ien showing spon aneous resolu ion o a
drusenoid pigmen epi helial de achmen wi h a residual rim o conf uen large drusen. Visual acui y was 20/ 30.

Dry or Nonexudative Age Related Macular Degeneration

11

B
FIGURE 1-9. Multiple large drusen and conf uent drusen. A. Drusen may spon aneously regress and progress
o areas o righ pigmen epi helial a rophy ( arrow) . T ere is loss o oveal pigmen rom spon aneous resolu ion
o drusen. B. Early phase f uorescein angiogram demons ra ing mild rela ive hypof uorescence corresponding o
drusen ( arrow) .
( continued)

12

1 AGE-RELA ED MACULAR DEGENERA IO N

C
FIGURE 1-9. (Continued) Multiple large drusen and conf uent drusen. C. Recircula ion phase o f uorescein
angiogram showing s aining o drusen as discre e areas o hyperf uorescence (arrow) .

A
FIGURE 1-10. Multiple large drusen. A. Mul iple large conf uen drusen (inse s) . Visual acui y was 20/ 25.
( continued)

Dry or Nonexudative Age Related Macular Degeneration

13

C
FIGURE 1-10. (Continued) Multiple large drusen. B. Fluorescein angiogram showing early hyperf uorescence
o he large drusen ( arrow) . C. La e f uorescein angiogram showing drusen s aining bu no evidence o choroidal
neovasculariza ion (CNV, arrow) .

14

1 AGE-RELA ED MACULAR DEGENERA IO N

B
FIGURE 1-11. Atrophic AMD. A. Color undus pho ograph demons ra ing a rophic AMD. Mul iple large
and medium sized drusen are no ed, and an area o geographic a rophy is no ed jus superior o he ovea (inse
upper righ ) . T e borders are discre e, and he larger underlying choroidal vessels are visible. Areas o ocal
hyperpigmen a ion are no ed as well (inse lower righ ) . B. Early phase f uorescein angiogram demons ra ing
ransmission hyperf uorescence in he area o geographic a rophy.
( continued)

Dry or Nonexudative Age Related Macular Degeneration

15

D
FIGURE 1-11. (Continued) Atrophic AMD. C. Recircula ion phase pho ograph shows hyperf uorescence in
he area o geographic a rophy bu no evidence o leakage (inse ) . D. La e phase f uorescein angiogram showing
some ading o he choroidal f uorescence and s aining hyperf uorescence in he region o geographic a rophy.

16

1 AGE-RELA ED MACULAR DEGENERA IO N

FIGURE 1-12. Amsler grids. Pa ien s are ins ruc ed o moni or heir cen ral vision one eye a a ime.
Dis or ion, blurriness, or missing areas should promp evalua ion.

Exudative Age Related Macular Degeneration

EXUDA
E
XUD
D A IVE
I VE AG
AGE-RELA
G E -R
R EL
L A ED
D
MACULAR
M
ACU
U LAR
RD
DEGEN
EG
G EN E
ERA
RA
A IO N

xuda ive AMD is charac erized by in rare inal, subre inal or subre inal pigmen epihelial leakage, hemorrhage, or lipid exuda ion.
CNV is he abnormal grow h o new choroidal
vessels in o he subre inal space hrough de ec s
in Bruchs membrane. In AMD, CNV may be
inves ed wi hin Bruchs membrane and he re inal pigmen epi helium. Younger pa ien s (nonAMD) who develop CNV ypically develop
his vasculariza ion in he subre inal space alone.
Pigmen epi helial de achmen describes a blis erlike eleva ion o he re inal pigmen epi helium
and is ano her orm o exuda ive AMD. Pigmen
epi helial de achmen s may be vascularized
(f brovascular pigmen epi helial de achmen )
or may be purely serous and no associa ed wi h
CNV. Disci orm scarring is a f nal common pa hway o CNV and pigmen epi helial de achmen
in which here is progressive f brosis and loss o
macular pho orecep or unc ion (Fig. 1-13).
Al hough he prevalence o he exudaive orm o AMD is low (approxima ely 10%
o all pa ien s wi h AMD), his orm o la e
AMD accoun s or he majori y o legally blind
pa ien s wi h AMD (90%). T e incidence o
exuda ive AMD is on he rise, wi h an es ima ed
200,000 individuals experiencing severe cen ral
loss o vision due o exuda ive AMD in he year
2011. T is is expec ed o rise o approxima ely
500,000 per year by he year 2030.

EPIDEMIOLOGY AND
ETIOLO GY
CNV is he leading cause o cen ral blindness among he elderly in he Uni ed S a es
and in mos o he Wes ern world. T e pa hophysiology o exuda ive AMD and he specif c s imuli required or he developmen o
CNV are no well unders ood.

17

PATHOLO GY
CNV is ypically derived rom choroidal
venules and may invade above and benea h
he RPE hrough breaks in Bruchs membrane.

HISTORY
Pa ien s wi h exuda ive AMD may no e
loss o vision, dis or ion o vision, or blurring
o vision. Early changes may be more eviden
wi h Amsler grid moni oring.
Pa ien s may be asymp oma ic, however, i
he ellow eye con inues o unc ion well.
T ere may be a his ory o loss o vision in
he ellow eye due o exuda ive AMD.

CLINICAL O CT
AND FLUORESCEIN
ANGIO GRAPHIC SIGNS
Care ul sli lamp undus biomicroscopy is
impor an in he diagnosis o exuda ive AMD.
Clinical signs o re inal edema, subre inal
uid, lipid exuda ion and in ra and subre inal
hemorrhage can be sub le. In par icular, i is
di cul o de ermine re inal uid when here
are areas o RPE depigmen a ion or a rophy.
OC imaging o exuda ive AMD may
reveal hickening o he macula or re inal pigmen epi helium. T ere is o en in rare inal
cys ic change, subre inal uid or RPE de achmen . Quan i a ive imaging over ime and
wi h image regis ra ion a ords in orma ion o
de ermine response o herapy. No all cys ic
change may represen rue edema as chronic
re inal uid may crea e ubular changes ha
mimic edema.
Fluorescein angiographic classif ca ion o
exuda ive AMD was par icularly impor an
prior o pharmacologic herapy, specif cally an i-vascular endo helial grow h ac or
rea men .

18

1 AGE-RELA ED MACULAR DEGENERA IO N

Classic Choroidal Neovascularization


Fundus biomicroscopy may reveal a greenish gray subre inal lesion o en wi h associa ed
submacular uid, hemorrhage, or lipid exudaion due o he incompe en vascula ure o
he CNV. Occasionally, a ring o dark pigmen
may surround he CNV. T e pigmen ring is
more commonly observed in pa ien s wi h
classic CNV. Fluorescein angiography is necessary o charac erize he na ure and loca ion
o he CNV. CNV may be sub oveal i localized benea h he geome ric cen er o he ovea,
jux a oveal i localized rom 1 o 199 m rom
he oveal cen er, or ex ra oveal i 200 m or
ar her rom he cen er o he ovea.
Classic CNV is charac erized by early
appearance o uorescein leakage during he
choroidal and re inal vascular f lling phases
o he uorescein angiogram (Fig. 1-14).
T e leakage may be charac erized by a lacy
appearance o a ne work o blood vessels (bu
his is no requisi e) and ypically is airly well
delinea ed. More impor an ly, he lesion mus
demons ra e con inued leakage hrough he
recircula ion and la e phases o he uorescein angiogram.
Occult Choroidal Neovascularization
Fundus biomicroscopy may demons ra e
irregular eleva ion o he RPE mos commonly in associa ion wi h submacular uid,
hemorrhage, or lipid exuda ion due o he
incompe en vascula ure o he CNV; less
commonly, irregular eleva ion o he RPE
alone may comprise he only clinical sign o
occul CNV. Occul CNV is charac erized by
la er appearing and less in ense uorescein
angiographic leakage.
One ype o occul CNV, f brovascular pigmen epi helial de achmen , is charac erized
by irregular s ippled hyper uorescence wi h
mild leakage or s aining o uorescein dye
in poorly demarca ed boundaries o leakage
(Fig. 1-15). T e second ype o occul CNV,

la e leakage o unde ermined source, is charac erized by leakage o uorescein dye in he


recircula ion phase o he uorescein angiogram associa ed wi h pooling o uorescein
dye in he subre inal space and areas o speckled hyper uorescence (Fig. 1-16).
Mos pa ien s wi h exuda ive AMD demons ra e a combina ion o classic and occul
CNV (Fig. 1-17). Charac eriza ion o he di eren ypes o CNV is impor an as managemen recommenda ions are based no only
on he loca ion o he lesion, bu also on he
na ure o he CNV.
Fibrovascular Pigment Epithelial
Detachment and Serous Pigment
Epithelial Detachment
Fibrovascular pigmen epi helial de achmen is a orm o occul CNV. Purely serous
pigmen epi helial de achmen is charac erized by a blis er-like eleva ion o sub-RPE
uid. Fundus biomicroscopy shows an orange
ring ha illumina es wi h a sli -lamp ligh
beam. A serous pigmen epi helial de achmen is o en associa ed wi h a serous de achmen o he neurosensory macula as well.
Fluorescein angiography shows a uni orm
rapid f lling o uorescein dye benea h he
boundaries o he pigmen epi helial de achmen (Fig. 1-18).
Fibrovascular pigmen epi helial de achmen s may have associa ed serous re inal
pigmen epi helial de achmen s and are o en
deno ed by a no ch on he uorescein angiogram (Fig. 1-19A, B). T e no ch represen s
he CNV. Fibrovascular pigmen epi helial
de achmen s are more likely o have a serosanguineous componen in he sub-RPE uid,
and his may be visualized oph halmoscopically. Indocyanine green angiography may
be help ul in imaging presumed CNV in he
set ing o occul CNV and pigmen epi helial
de achmen (Fig. 1-19C, D).

Exudative Age Related Macular Degeneration

Retinal Pigment Epithelial ears


Re inal pigmen epi helial ears may be
observed in associa ion wi h pigmen epi helial de achmen s. A scrolled edge o RPE may
be apparen wi h undus biomicroscopy and
some imes is associa ed wi h a at ening o he
re inal pigmen epi helial de achmen . Vision
loss is ypically observed wi h a re inal pigmen
epi helial ear, al hough in some cases, good
cen ral vision is preserved in he shor erm.
Fluorescein angiography shows early in ense
hyper uorescence corresponding o he area
o denuded RPE and rela ive hypo uorescence
where here is scrolled and redundan re inal
pigmen epi helial issue (Fig. 1-20).
Submacular Hemorrhage
A large submacular hemorrhage may be
associa ed wi h apoplec ic loss o cen ral vision.
I may be he presen ing mani es a ion o exuda ive AMD or may ollow he developmen o
classic or occul CNV, or bo h (Fig. 1-21).
Fundus biomicroscopy shows subre inal
and some imes prere inal or subre inal pigmen epi helial hemorrhage ha may have signif can eleva ion grea er han 1 mm in heigh .
T e ex en o he hemorrhage may be limi ed
or some imes can ex end o involve he en ire
pos erior pole or beyond. Vision loss ypically
correla es wi h he ex en o sub oveal involvemen and he wo-dimensional size o he
submacular hemorrhage.
Fluorescein angiography may or may no
show source CNV. T e submacular hemorrhage will ypically obscure underlying normal and pa hologic choroidal uorescence.
Disciform Scar
Disci orm scar is he f nal common pa hway o exuda ive AMD. T in or hick f bro ic
submacular scarring may be observed, and
here may be associa ed chronic submacular
uid, lipid exuda ion, cys oid macular edema,
and submacular hemorrhage (see Fig. 1-13).

19

Occasionally, re inochoroidal anas omoses


are seen connec ing he underlying pa hologic CNV and f brosis wi h he re inal
circula ion. Fluorescein angiography shows
s aining o he disci orm scar and leakage
rom any residual ac ive CNV.

DIFFERENTIAL DIAGNOSIS
Signs o exuda ive AMD such as re inal
hemorrhage, lipid exuda ion, macular edema,
and submacular uid may be con used wi h
non-AMD condi ions. For example, serous
de achmen s o he macula may be associa ed
wi h cen ral serous re inopa hy, al hough his
is ypically seen in younger pa ien s.
In rare inal hemorrhage can be seen in
re inal venous occlusive disease, hyper ensive
re inopa hy, or diabe ic re inopa hy, bu i
also may be he presen ing sign o early CNV.
Cys oid macular edema may be a presen ing sign o CNV. Cys oid macular edema due
o CNV may be con used wi h pseudophakic
cys oid macular edema. Macular edema
associa ed wi h re inal vascular condi ions
such as venous occlusive disease, para oveal
elangiec asia, or diabe ic re inopa hy may
presen in similar ashion o exuda ive AMD.
S ereoscopic uorescein angiography is
cri ical o make he correc diagnosis.
Polypoidal choroidal vasculopa hy is an
exuda ive maculopa hy ha may be seen in
all races bu usually is observed in A rican
Americans or Asian Americans in whom
exuda ive AMD is less common. T is condiion is charac erized by choroidal aneurysms
wi h associa ed serosanguineous pigmen
epi helial de achmen s and submacular exuda ion. T is par icular condi ion is imaged
well wi h indocyanine green angiography,
whereby choroidal saccular aneurysms may
be highligh ed in a peripapillary dis ribu ion
or in a macular dis ribu ion.

20

1 AGE-RELA ED MACULAR DEGENERA IO N

Large submacular or in rare inal hemorrhages can be seen in he set ing o rauma,
choroidal umor, or re inal ar erial macroaneurysm, and hese condi ions, in addi ion o
exuda ive AMD, should be considered in he
con ex o his clinical presen a ion.

PROGNOSIS AND
MANAGEMENT
T e cen ral visual prognosis o exuda ive
AMD has drama ically improved wi h he
adven o an i-VEGF injec ion herapies;
peripheral vision ypically remains una ec ed.
Over 90% o pa ien s can experience mainenance o vision over ime wi h requen
an i-VEGF injec ions. Up o a hird or higher
o hese pa ien s can experience signif can
visual gains wi h his rea men . T ere are a
varie y o clinical research rials inves iga ing
new rea men s or exuda ive AMD.
Evidence-based and Other T erapies
T e curren benchmark ounda ion herapy
or exuda ive AMD is mon hly (ranibizumab,
Lucen is) o bimon hly (a ibercep , Eylea)
an i-VEGF injec ions as es ablished by randomized con rolled clinical rials ha requen
moni oring visi s and requen injec ions
a ord he highes chance o bes visual acui y.
Ranibizumab, a ibercep and o -label
bevacizumab appear o have grea er po ency
compared wi h pegap anib (Macugen)
al hough a compara ive rial has no been
per ormed. Curren ly, here are mul iple clinical rials exploring he po en ial enhanced
e cacy o combining an i-VEGF injec ion
herapy wi h o her pharmacologic agen s.
T ermal laser photocoagulation: In he
1980s he Macular Pho ocoagula ion S udy

Group Classic es ablished ha hermal laser


pho ocoagula ion was he rea men o choice
or well-delinea ed ex ra oveal CNV. T e major
problem wi h his herapy is ha up o 60%o
eyes will develop recurren CNVs, he majori y
o which are sub oveal (Fig. 1-22). Curren ly,
many specialis s would choose an i-VEGF injecion herapy or ex ra oveal CNV because i is
less des ruc ive and po en ially more e cacious.
Verteporf n photodynamic therapy
(PD ): Prior o an i-VEGF injec ion herapy
he rea men o AMD wi h Pho odynamic
T erapy S udy Group es ablished ha ver eporf n PD was he rea men o choice
or predominan ly classic sub oveal CNV.
Al hough visual improvemen was achieved in
only a minori y o eyes (approxima ely 15% a
1 year), rea ed eyes show more visual s abili y han observed eyes over 2 years. rea men
benef was also es ablished or occul CNV
bu no or mixed lesions ha are less han predominan ly classic CNV (Fig. 1-23). Curren ly,
ver eporf n PD is generally considered as
a po en ial adjunc ive rea men or exudaive AMD and is o en per ormed a reduced
energy uence. PD may play a larger role in
he rea men o polypoidal choroidal vasculopa hy compared wi h exuda ive AMD.
Surgical T erapies
T e submacular surgery rials did no
demons ra e benef or surgical evacua ion
o large submacular hemorrhage and CNV.
Surgical displacemen o large submacular
hemorrhages wi h or wi hou clo lysing
agen s such as issue plasminogen ac ivaor may improve vision or some pa ien s
and may also reveal underlying CNVa
his ime here are no surgical clinical rials
exploring he displacemen o large submacular hemorrhage.

Exudative Age Related Macular Degeneration

21

FIGURE 1-13. Disci orm scar. A large area o submacular brosis wi h chronic submacular f uid is no ed.
Disci orm scarring is he nal common pa hway or exuda ive AMD. Visual acui y is coun ing ngers eccen rically.

A
FIGURE 1-14. Exudative AMD, classic CNV. A. Shallow submacular f uid and in rare inal hemorrhage are no ed.
( continued)

22

1 AGE-RELA ED MACULAR DEGENERA IO N

C
FIGURE 1-14. (Continued) Exudative AMD, classic CNV. B. Ar erio venous phase f uorescein angiogram
showing a car wheel o ex ra oveal classic CNV ( arrow) and hypof uorescence corresponding o re inal
hemorrhage. C. Recircula ion phase pho ograph showing early leakage o dye rom he classic CNV.
( continued)

Exudative Age Related Macular Degeneration

23

E
FIGURE 1-14. (Continued) Exudative AMD, classic CNV. D. La e image showing some pooling o dye benea h
he neurosensory re ina. E. T ermal laser pho ocoagula ion is per ormed and shows re inal whi ening.
( continued)

24

1 AGE-RELA ED MACULAR DEGENERA IO N

G
FIGURE 1-14. (Continued) Exudative AMD, classic CNV. F. T ree weeks la er here is evidence o a rophy
in he area o laser rea men and resolu ion o he submacular f uid. G. Fluorescein angiogram showing no
evidence o recurren CNV a 3 weeks. T e pa ien remains a risk or he subsequen developmen o recurren
CNV.

Exudative Age Related Macular Degeneration

25

B
FIGURE 1-15. Occult CNV. A. Color undus pho ograph demons ra ing drusen and sligh ly urbid submacular
f uid cen ered in erior o he ovea (inse ). B. Recircula ion phase f uorescein angiogram demons ra ing ill
de ned s ippled hyperf uorescence in erior o he ovea. T ere is some drusen s aining as well (inse ).
(continued)

26

1 AGE-RELA ED MACULAR DEGENERA IO N

FIGURE 1-15. (Continued) Occult CNV. C. Fluorescein angiogram demons ra ing some mild leakage o
f uorescein dye benea h he ovea. La e f uorescein angiographic images show ill de ned leakage in erior o he
ovea (inse ) . D. Red ree image o occul CNV. E. OC image demons ra ing in rare inal f uid, subre inal f uid
and re inal pigmen epi helial de achmen .

Exudative Age Related Macular Degeneration

27

B
FIGURE 1-16. Occult CNV. A. Color undus pho ograph showing urbid submacular f uid and drusen ( arrow) .
B. Fluorescein angiogram showing ill de ned s ippled hyperf uorescence emporal o he ovea ( arrow).
( continued)

28

1 AGE-RELA ED MACULAR DEGENERA IO N

D
FIGURE 1-16. (Continued) Occult CNV. C. Fluorescein angiogram showing more di use ill de ned leakage
(arrow) . D. La e f uorescein angiogram showing poorly demarca ed, s ippled hyperf uorescence and leakage o
dye charac eris ic o occul CNV ( arrow) .

Exudative Age Related Macular Degeneration

29

B
FIGURE 1-17. Classic and occult CNV. A. Fundus pho ograph demons ra ing macular edema as well as
shallow submacular f uid due o exuda ive AMD (arrow) . Some drusen are no ed peripheral o he neurosensory
de achmen . B. Ar erio venous phase f uorescein angiogram showing hyperf uorescence consis en wi h
combina ion o classic and occul CNV. Classic componen is superior and emporal.
( continued)

30

1 AGE-RELA ED MACULAR DEGENERA IO N

D
FIGURE 1-17. (Continued) Classic and occult CNV. C. Midphase f uorescein angiogram demons ra ing
leakage rom he sub oveal CNV. Classic componen shows brigh er hyperf uorescence han he occul CNV. D.
Pooling o f uorescein dye below he neurosensory de achmen rom classic and occul CNV (inse ) .

Exudative Age Related Macular Degeneration

31

B
FIGURE 1-18. Retinal pigment epithelial detachment. A. Color undus pho ograph showing a re inal
pigmen epi helial de achmen wi h submacular f uid cen ered emporal o he ovea. Some drusen are no ed
emporal o he de achmen . B. Midphase f uorescein angiogram showing hyperf uorescence corresponding o a
large re inal pigmen epi helial de achmen .
( continued)

32

1 AGE-RELA ED MACULAR DEGENERA IO N

D
FIGURE 1-18. (Continued) Retinal pigment epithelial detachment. C. Recircula ion phase f uorescein
angiogram demons ra ing pooling o dye benea h he pigmen epi helial de achmen and a brovascular
componen cen ered on he ovea. D. Fluorescein angiogram showing he ex en o he serous and brovascular
pigmen epi helial de achmen . T e area o involvemen remains unchanged rom he recircula ion phase image.
( continued)

Exudative Age Related Macular Degeneration

33

FIGURE 1-18. (Continued) Retinal pigment epithelial detachment. E. Red ree undus image o re inal
pigmen epi helial de achmen . F. OC image demons ra es re inal pigmen epi helial de achmen and
associa ed macular edema.

34

1 AGE-RELA ED MACULAR DEGENERA IO N

B
FIGURE 1-19. Serous pigment epithelial detachment. A. Color undus pho ograph demons ra ing a blis er
like eleva ion o a serous pigmen epi helial de achmen (inse ). B. Fluorescein angiogram showing a serous
pigmen epi helium de achmen cen ered on he ovea wi h a no ch on he nasal border. T e no ch may represen
an area o CNV.
( continued)

Exudative Age Related Macular Degeneration

35

D
FIGURE 1-19. (Continued) Serous pigment epithelial detachment. C. Ano her pa ien wi h pigmen epi helial
de achmen seen on f uorescein angiography; no no ch is observed. D. Indocyanine green angiogram showing
a ocal area o hyperf uorescence (arrow) wi hin he pigmen epi helial de achmen corresponding o presumed
CNV.

36

1 AGE-RELA ED MACULAR DEGENERA IO N

B
FIGURE 1-20. Retinal pigment epithelial tear. A. A re inal pigmen epi helial ear is no ed by he discre e
borders o he loss o pigmen in he emporal macula. A scrolled edge can be seen as a curved hyperpigmen ed
line ex ending hrough he ovea (inse ) . B. Early phase f uorescein angiogram showing a brigh , well delinea ed
area o hyperf uorescence corresponding o he re inal pigmen epi helial ear. T e redundan scrolled edge o he
ear shows as rela ive hypof uorescence in an arc hrough he ovea (inse ) .
( continued)

Exudative Age Related Macular Degeneration

37

D
FIGURE 1-20. (Continued) Retinal pigment epithelial tear. C. La e phase f uorescein angiogram showing no
evidence o f uorescein dye leakage beyond he emporal border o he ear (inse ) . D. T ir y mon hs la er, he
color undus pho ograph shows some submacular brosis and a rophy in he re inal pigmen epi helial ear.
Underlying choroidal vessels are visible in he region o he ear (inse ).

38

1 AGE-RELA ED MACULAR DEGENERA IO N

FIGURE 1-21. Submacular hemorrhage. Submacular hemorrhage can cause drama ic sudden loss o cen ral
vision in pa ien s wi h exuda ive AMD. No e ha some overlying re inal vessels are visible, he clue ha he
hemorrhage is subre inal.

Exudative Age Related Macular Degeneration

39

B
FIGURE 1-22. Recurrent CNV a er thermal laser treatment. A. Color undus pho ograph shows prior
area o hyperpigmen ed hermal laser pho ocoagula ion scar and new submacular hemorrhage and f uid
ex ending hrough he ovea. B. Fluorescein angiogram showing he hyperf uorescen , sub oveal, recurren CNV
surrounded by a rim o hypof uorescence. T e old hermal laser scar is predominan ly hypof uorescen in erior o
he CNV.

40

1 AGE-RELA ED MACULAR DEGENERA IO N

B
FIGURE 1-23. Anti VEGF therapy or exudative AMD. A. Color undus pho ograph demons ra ing serous
macular de achmen and re inal hemorrhage prior o rea men wi h mon hly in ravi real ranibizumab an i VEGF
herapy. Visual acui y was 20/ 100. B. Pre rea men f uorescein angiogram demons ra ing occul sub oveal CNV.
( continued)

Exudative Age Related Macular Degeneration

41

D
FIGURE 1-23. (Continued) Anti VEGF therapy or exudative AMD. C. Pre rea men f uorescein angiogram
demons ra ing leakage wi hin he neurosensory de achmen . D. Pre rea men OC image demons ra es CNV
and hickening o he macula.
( continued)

42

1 AGE-RELA ED MACULAR DEGENERA IO N

F
FIGURE 1-23. (Continued) Anti VEGF therapy or exudative AMD. E. One year post rea men color undus
pho ograph reveals diminished submacular f uid and absence o re inal hemorrhage. Visual acui y was 20/ 40.
F and G. Post rea men f uorescein angiogram demons ra ing less leakage and s aining.
( continued)

Exudative Age Related Macular Degeneration

43

H
FIGURE 1-23. (Continued) Anti VEGF therapy or exudative AMD. H. Post rea men OC image reveals
reduced macular hickening. Visual acui y was 20/ 40.

C H AP T ER

Macular
M
acullar Diseases
D
Nikolas
N
Ni
kolas J.S. London
Lon
ondo
don and Mitchell S. Fineman

MACU
MACULAR
M
MA
AC
CU
UL
LA
AR EPIRE
E IIR
EP
R E INAL
I NA
N L
MEMBRAN
M
EM
MB
BR
R AN
A E

acular epire inal membrane is an acquired


orma ion o a semi ransparen f brocellular membrane in he macula.

EPIDEMIOLOGY
AND ETIOLO GY
Macular epire inal membranes may be
ei her idiopa hic or secondary o o her in raocular abnormali ies, including re inal breaks,
re inal vascular disease, uvei is, blun and
pene ra ing rauma, and surgery. Idiopa hic
macular epire inal membranes are mos common a er 50 years o age.
Males and emales are a ec ed equally.
Bila eral macular epire inal membranes
occur in approxima ely 20% o pa ien s,
wi h he severi y o he membranes usually
asymme ric.
Mos pa ien s have pos erior vi reous
de achmen (PVD), and i is hough ha his
phenomenon may con ribu e o orma ion
44

o he membrane. A er PVD, a por ion o


pos erior cor ical vi reous may be le behind
on he macula, or he in ernal limi ing membrane may be disrup ed, allowing glial cells o
proli era e on he sur ace o he re ina. T ese
proli era ing glial cells orm he epire inal
membrane. A er re inal break orma ion and
rauma, re inal pigmen epi helial cells may
escape in o he vi reous cavi y and set le upon
he macula. T ese cells may hen undergo
me aplasia o glial cells, allowing he ormaion o macular epire inal membranes.

HISTORY
I he macular epire inal membrane is hin
and no producing dis or ion o he re ina,
hen he pa ien is usually asymp oma ic.
Wi h progressive hickening and con rac ion
o he membrane, pa ien s begin o no ice
decreased vision, me amorphopsia, and macropsia or micropsia.
Mos pa ien s main ain vision bet er han
20/ 50.
Mos epire inal membranes progress slowly
and occasionally improve spon aneously.

Macular Epire inal Membrane

IMPORTANT
CLINICAL SIGNS
Macular epire inal membranes ini ially
appear as ranslucen , glis ening membranes
over, or adjacen o, he cen ral macula
(Fig. 2 1). T ere may be a pseudohole
appearance over he ovea. As he membrane
ma ures, i becomes more opaque (Fig. 2 2A).
T ere may be associa ed superf cial hemorrhages or nerve f ber layer in arc s.
T e membranes con rac cen rally and
cause wrinkling and dis or ion o he underlying re ina. T is wrinkling and dis or ion
gives rise o o her names or his condi ion:
cellophane maculopa hy, sur ace wrinkling
re inopa hy, and macular pucker. I he disor ion is severe, cys oid macular edema and
even shallow rac ional re inal de achmen
can occur.

DIFFERENTIAL
DIAGNOSIS
Cys oid macular edema
Choroidal neovasculariza ion (CNV)
Macular hole
Choroidal olds
Combined hamar oma o he re ina
Re inal pigmen epi helium

45

DIAGNOSTIC EVALUATION
Usually measuremen o visual acui y,
Amsler grid es ing ( o assess or me amorphopsia, macropsia, or micropsia) and ophhalmoscopy su ce o make he diagnosis
o macular epire inal membrane. Sli -lamp
biomicroscopy wi h ei her a noncon ac or a
con ac lens grea ly acili a es diagnosis.
Op ical coherence omography (OC ) has
become s andard in documen ing he presence
o an epire inal membrane. OC reveals a
hyperre ec ive band on he sur ace o he re ina,
associa ed wi h re inal dis or ion, hickening,
and/ or cys oid edema in advanced cases.
Fluorescein angiography will clearly delinea e
re inal vascular dis or ion and leakage ha may
occur rom cys oid macular edema (Fig. 2 2B, C).

PROGNOSIS AND
MANAGEMENT
Mos pa ien s wi h uniocular macular
epire inal membrane and vision bet er han
20/ 50 are usually no signif can ly symp oma ic and do no require in erven ion. Pa ien s
wi h vision o 20/ 60 or worse and hose
pa ien s wi h in olerable dis or ion may benef
rom pars plana vi rec omy wi h membrane
peeling and removal (Fig. 2 3).
Rarely, he membrane may spon aneously
release, leading o resolu ion o symp oms.

46

2 MACULAR DISEASES

FIGURE 2-1. Macular epiretinal membrane. Glis ening membrane over he macula causing dis or ion o
cen ral re ina.

A
FIGURE 2-2. Macular epiretinal membrane. A. T ick membrane over he macula causing dis or ion o
he cen ral re ina.
( continued)

Macular Epire inal Membrane

47

C
FIGURE 2-2. ( Continued) Macular epiretinal membrane. B. Fluorescein angiogram showing dis or ion o he
macular re ina. C. La e-phase f uorescein angiogram showing in rare inal leakage o dye rom dis or ed re inal
vessels.

48

2 MACULAR DISEASES

B
FIGURE 2-3. Macular epiretinal membrane. A. Preopera ive appearance o membrane (inse ) ; visual acui y
was 6/ 60. No e he re inal olds and re inal vascular compression and or uosi y. B. Pos opera ive appearance
o membrane (inse ) ; visual acui y was 6/ 12. T ere is less re inal vascular or uosi y.

Idiopa hic Macular Hole

IIDIO
DIO
O PA
A H IC
C MACULAR
M ACUL
L AR
R
H O LE
LE

diopa hic macular hole is an acquired ullhickness de ec o re ina in he cen ral


macula.

EPIDEMIOLOGY
AND ETIOLO GY
Idiopa hic macular holes ypically occur in
he six h hrough eigh h decades o li e wi h a
3:1 predominance in women.
T e incidence o bila erali y is 5% o 10%.
angen ial vi reore inal rac ion is he
presumed cause o developmen o idiopa hic
macular hole.
T e Gass classif ca ion o he s ages o
idiopa hic macular hole developmen is
help ul in unders anding he progression o
he disease and he biomicroscopic f ndings
(Table 2 1).
Pa ien s wi h a ull- hickness macular hole
in one eye and an impending macular hole
wi h no PVD in he ellow eye are a subs an ial
risk o progression o s age 2 macular hole in

49

he second eye. Pa ien s wi h a ull- hickness


macular hole in one eye and a normal re ina
wi h PVD in he ellow eye are a very lit le
risk o progressing o macular hole in he
second eye.

HISTORY
Pa ien s usually repor decreased visual
acui y wi h cen ral sco oma. T ere may be
me amorphopsia.
O en pa ien s no ice decreased vision in
he a ec ed eye when he ellow eye is incidenally covered as or a rou ine eye examina ion.

IMPORTANT CLINICAL SIGNS


Depending on he s age and severi y o
he macular hole, he visual acui y may be
near normal or severely reduced o less han
20/ 400.
Amsler grid es ing will o en reveal
me amorphopsia or a cen ral sco oma.
Oph halmoscopy and sli -lamp biomicroscopy reveal f ndings consis en wi h he s age
o he macular hole.

TABLE 2-1. S ages o Developmen o Idiopa hic Macular Hole


S age 1A

Early con rac ion o ou er par o vi reous cor exwi h oveolar de achmen (impending macular
hole)

S age 1B

Fur her vi reous con rac ion and condensa ion o he pre oveal vi reous cor exwi h oveal
de achmen (impending macular hole)

S age 2

Small (<400 m) peri oveal dehiscence

S age 3

Larger (>400 m) cen ral ull- hickness hole usually accompanied by a rim o re inal eleva ion;
he pos erior cor ical vi reous remains at ached; here may be a small operculum overlying he
macular hole

S age 4

Macular hole has an associa ed comple e pos erior vi reous de achmen ; hese holes are usually
large (>400 m).

Based on Gass JD. Reappraisal o biomicroscopic classifca ion o s ages o developmen o a macular hole. Am J Opthalmol.
1995;119:752759.

50

2 MACULAR DISEASES

S age 1 holes appear as a small yellow


cys or ring around he ovea wi h a loss o
he oveal depression (Fig. 2 4).
S age 2 holes appear as a small round or
crescen -shaped de ec in he ovea (Fig. 2 5).
S age 3 holes have a dark round de ec
in he ovea, o en wi h a cu o subre inal
uid accumula ion (Fig. 2 6).
S age 4 holes are o en larger han s age
3 holes and are associa ed wi h a PVD
(Fig. 2 7).
T ere are o en small yellow do s in he
cen er o he hole a he level o he re inal
pigmen epi helium (Fig. 2 8).

ASSO CIATED CLINICAL


SIGNS
T e Wa zkeAllen sign is he pa ien s
descrip ion o discon inuance in he cen er o
a hin sli beam shone over he ovea.

DIFFERENTIAL DIAGNOSIS
Macular epire inal membrane wi h
pseudohole
Cys oid macular edema
Cen ral serous re inopa hy (CSR)
Choroidal neovascular membrane
Solar re inopa hy
Adul vi elli orm dys rophy

DIAGNOSTIC EVALUATION
Clinical examina ion alone is o en
diagnos ic. Fluorescein angiography in

eyes wi h s age 2, 3, or 4 macular holes


will reveal early cen ral hyper luorescence
in he ovea corresponding o loss o xanhophyll pigmen and re inal pigmen epihelial depigmen a ion and a rophy a he
base o he hole. OC clearly dis inguishes
be ween par ial- and ull- hickness holes.
(Fig. 2 9).

PROGNOSIS AND
MANAGEMENT
No rea men is recommended or s age 1
macular holes because hese resolve spon aneously in 50% o cases. Spon aneous resoluion o more advanced s ages o macular hole
can occur, bu i is rare.
Vi rec omy can be per ormed or more
advanced s ages o macular hole. T e surgery
consis s o a s andard pars plana vi rec omy,
peeling o he pos erior hyaloid, and injecion o a long-ac ing gas such as per uoropropane. Peeling o he in ernal membrane
may also be done. Pa ien s mus hen mainain ace-down posi ioning or 1 o 2 weeks
o allow he gas bubble o amponade he
hole. Recen evidence sugges s ha acedown posi ioning is no as cri ical as once
believed, bu his needs o be s udied ur her.
T e success ra e or macular hole surgery
approaches 80% o 90% wi h closure o he
hole and improvemen in visual acui y
(Fig. 2 10).
Nega ive prognos ic indica ors
include a long dura ion o hole presence
(i.e. grea er han 1 year) and larger size o
he hole.

Idiopa hic Macular Hole

51

B
FIGURE 2-4. Idiopathic macular hole, stage 1. A. S age 1 macular hole wi h yellow ring appearance around
he ovea. Visual acui y remains 6/ 7.5. B. Op ical coherence omography showing s age 1 macular hole.

52

2 MACULAR DISEASES

B
FIGURE 2-5. Idiopathic macular hole, stage 2. A. S age 2 macular hole appears as a small round de ec in he
ovea (inse ) . B. Op ical coherence omography showing s age 2 macular hole wi h persis en rac ion on one
edge o he hole.

Idiopa hic Macular Hole

53

B
FIGURE 2-6. Idiopathic macular hole, stage 3. A. S age 3 macular hole wi h cu o subre inal f uid around
he hole. B. Op ical coherence omography showing s age 3 macular hole.

54

2 MACULAR DISEASES

B
FIGURE 2-7. Idiopathic macular hole, stage 4. A. S age 4 macular hole; no e condensed vi reous o pos erior
vi reous de achmen overlying in ero emporal vascular arcade ( arrow) . B. Op ical coherence omography
showing s age 4 macular hole.

Idiopa hic Macular Hole

55

B
FIGURE 2-8. Idiopathic macular hole, chronic. A. Chronic s age 4 macular hole wi h subre inal precipi a es
(inse ) . B. Re inal pigmen epi helial ring around macular hole indica es chronici y.

56

2 MACULAR DISEASES

FIGURE 2-9. Idiopathic macular hole. Op ical coherence omography (OC ) o s age 4 macular hole showing
comple e de ec in re ina.

Idiopa hic Macular Hole

57

B
FIGURE 2-10. Idiopathic macular hole. A. Preopera ive appearance o s age 3 macular hole ( yellow spo s are
inciden al drusen) . B. Pos opera ive appearance o s age 3 macular hole; no e closed appearance o hole. Vision
improved o 6/ 12 rom 6/ 30.

58

2 MACULAR DISEASES

VI R
REO
EO
OM
MACULAR
AC
C U L AR
RAC
RA
AC IO
I O N SYN
SY
YN DRO
DR
R O ME
E

i reomacular rac ion syndrome (VM S)


is an acquired condi ion in which here is
par ial separa ion o he pos erior hyaloid wi h
persis en at achmen o he macula and, occasionally, he op ic nerve head.

EPIDEMIOLOGY
AND ETIOLO GY
VM S occurs in he same age group as
hose who develop PVD. PVD is uncommon
be ore 50 years o age and is presen in over
50% o people aged 70 years and older.

HISTORY
Pa ien s who have VM S experience
progressive dis or ion and visual loss, which
is o en more severe han ha occurring wi h
macular epire inal membrane.

IMPORTANT
CLINICAL SIGNS
T e pos erior hyaloid is visibly hickened.
T ere is macular dis or ion, o en wi h rac ional
re inal de achmen in he macula. Re inal s riae
may be presen . T ere may be rac ion in he
peripapillary region. An epire inal membrane
may be seen clinically (Fig. 2 11).

DIFFERENTIAL DIAGNOSIS
Macular epire inal membrane
Combined hamar oma o he re ina and
re inal pigmen epi helium

DIAGNOSTIC EVALUATION
Fluorescein angiography may reveal re inal
vascular dis or ion and leakage. T ere may
be cys oid macular edema and op ic nerve
edema.
Spec ral-domain OC helps de ermine
he presence o VM S as well as associa ed
macular edema and rac ional de achmen .

PROGNOSIS AND
MANAGEMENT
Occasionally pa ien s may experience
spon aneous improvemen i PVD occurs.
Surgical in erven ion is indica ed i visual
acui y is reduced o 20/ 70 or worse. During
vi rec omy surgery, he pos erior hyaloid is
removed, as are any epire inal membranes in
he macular region. T e re inal archi ec ure
can be res ored o a normal appearance. T e
vision can be improved bu usually comple e
recovery does no occur due o residual
macular edema.
Pharmacologic vi reolysis wi h microplasmin
is curren ly under inves iga ion or he rea men
o VM S, wi h promising ini ial resul s.

Vi reomacular Trac ion Syndrome

59

C
FIGURE 2-11. Vitreomacular traction syndrome. A. Adhesion o he vi reous o a premacular membrane
eleva es he ovea and crea es macular dis or ion. B. OC showing vi reomacular rac ion. C. Severe
vi reomacular rac ion may lead o secondary macular hole orma ion.

60

2 MACULAR DISEASES

CY
YS
S O IID
DM
MACULAR
AC U LAR
R
EDEMA
ED
DEMA

ys oid macular edema (CME) is he resul


o accumula ion o in rare inal uid in
he peri oveal region. Fluid accumula es in
cys ic spaces ha may be visible clinically and
on uorescein angiography.

EPIDEMIOLOGY
AND ETIOLO GY
CME is mos commonly seen a er ca arac
surgery. O her ypes o ocular surgery, such as
rabeculec omy, laser pho ocoagula ion and
cryore inopexy, may also give rise o CME.
Less commonly, CME is seen in associaion wi h diabe ic re inopa hy, CNV, uvei is,
re inal vein obs ruc ion, peri oveal elangiec asis, re ini is pigmen osa, and o her
en i ies.

HISTORY
CME ollowing ca arac surgery ypically has i s onse 6 o 10 weeks a er surgery.
Pa ien s experience an ini ial improvemen in
vision only o be ollowed by decreasing cenral vision in he range o 6/ 40 o 6/ 100.

IMPORTANT
CLINICAL SIGNS
When CME is presen in he pos ca arac
surgery pa ien , here is o en no abnormali y
no ed in he an erior segmen .
On sli -lamp biomicroscopy, pa ien s will
have cys ic spaces in he peri oveal area
(Fig. 2 12A), bes seen by narrowing he sli
beam adjacen o he ovea. T ere will also be
hickening o he cen ral macula and, occasionally, iny round in rare inal hemorrhages
a he edge o he oveal avascular zone.

ASSO CIATED
CLINICAL SIGNS
T ere may be no associa ed clinical signs
when CME occurs a er ca arac surgery.
However, CME is more common a er complica ed ca arac surgery in which here has been
rup ure o he pos erior capsule and vi reous
loss. Such f ndings as vi reous o he wound, iris
o he wound, iris a rophy, and an opening in
he pos erior capsule may here ore be presen .
When CME is presen in associa ion wi h
o her oph halmic diseases, hen he f ndings
o hose en i ies will be presen . For example,
pigmen migra ion in o he re inal midperiphery will be presen in pa ien s wi h CME
in associa ion wi h re ini is pigmen osa, and
di use in rare inal hemorrhages will be presen in pa ien s wi h CME in associa ion wi h
re inal venous occlusive disease.

DIFFERENTIAL DIAGNOSIS
CNV
Diabe ic macular edema

DIAGNOSTIC EVALUATION
Fluorescein angiography is help ul in es ablishing he diagnosis o CME. Fluorescein
angiography shows accumula ion o dye in he
peri oveal region in a pe alloid pat ern
(Fig. 2 12B). T ere is o en leakage o dye
rom he op ic nerve head (Fig. 2 12C),
o en called IrvineGass syndrome. T e oveal
avascular zone is no enlarged in uncomplica ed CME.
Angiographic CME may be presen in as
many as 60% o pa ien s ollowing rou ine
ca arac surgery. Clinically signif can CME,
in which pa ien s are symp oma ic, occurs in
2% o 10% o pa ien s ollowing uncomplica ed ca arac surgery.

Cys oid Macular Edema

PROGNOSIS AND
MANAGEMENT
Mos pa ien s who su er pos opera ive
CME will undergo spon aneous resolu ion
wi hin 6 mon hs. T erapeu ic in erven ion
is indica ed i pa ien s are symp oma ic wi h
decreased vision.
T ere is no single accep ed regimen or
managemen o pos opera ive CME. T e
mos common herapies are opical or periocular cor icos eroids, opical nons eroidal
an i-in amma ory drugs (NSAIDs), and
oral carbonic anhydrase inhibi ors in various

61

requencies o adminis ra ion and combina ion


o agen s. A ypical s ar ing regimen is opical
prednisolone ace a e and a opical NSAID 4
imes daily or several mon hs. For unresponsive cases, periocular or in ravi real cor icos eroid injec ion can be considered. Al erna ively,
in ravi real an i-VEGF or low-dose sys emic
ace azolamide can be considered.
Surgical in erven ion wi h Nd:YAG laser
vi reolysis or hin s rands o vi reous rapped
in he ca arac wound or vi rec omy or more
ex ensive vi reous or iris incarcera ion or vi reomacular adhesion may resul in resolu ion
o CME.

62

2 MACULAR DISEASES

B
FIGURE 2-12. Cystoid macular edema. A. T e normal oveal ref ex is los and here are cys oid changes in
he cen ral macula. B. Early ar eriovenous ransi phase f uorescein angiogram showing leakage o dye in he
peri oveal area.
( continued)

Cys oid Macular Edema

63

D
FIGURE 2-12. ( Continued) Cystoid macular edema. C. La e-phase f uorescein angiogram showing pe alloid
pat ern o dye leakage in addi ion o leakage o dye rom he op ic nerve head. D. OC showing cys oid macular
edema.

64

2 MACULAR DISEASES

PO
P
O LY
LYPO
YP O IDAL
I D AL CH O RO
O IDAL
ID
D AL
VASCULO
V
ASC
C U LO
O PA
PA H Y

olypoidal choroidal vasculopa hy (PCV)


is an idiopa hic hemorrhagic disorder o
he macula.

EPIDEMIOLOGY AND
ETIOLO GY
PCV is a disorder o he inner choroidal
vascula ure in which here is a ne work o
branching vessels deep o he choriocapillaris in associa ion wi h erminal aneurysmal
dila ions. I is assumed ha PCV represen s
a orm o CNV. However, polypoidal CNV
behaves di eren ly rom o her orms o
CNV, and he visual prognosis is bet er
compared wi h CNV.
PCV was ini ially described in elderly
black women bu is now known o occur in
all races wi h preponderance in heavily pigmen ed individuals.
Men are equally a ec ed as women.
T e average age o onse o polypoidal
CNV is much younger han ha o age-rela ed
macular degenera ion, bu he range o age
a onse is wider (less han 25 o more han
85 years). Lesions are usually bila eral, bu
pa ien s have been ollowed or years wi h
unila eral involvemen .

HISTORY
Pa ien s wi h PCV presen wi h decreased
and dis or ed vision i serosanguineous complica ions occur in he macula.

IMPORTANT
CLINICAL SIGNS
Pa ien s wi h PCV may develop chronic
recurren acu e serosanguineous de achmen s o

he re ina and re inal pigmen epi helium. T e


vascular lesions may be seen wi h sli -lamp biomicroscopy as reddish orange spheroidal or polypoidal lesions. T e lesions have a predilec ion
or he peripapillary area bu may be seen elsewhere in he macula and even in he periphery.
Rarely, bullous or o al serosanguineous
re inal de achmen wi h or wi hou vi reous
hemorrhage may occur.

ASSO CIATED
CLINICAL SIGNS
Sys emic hyper ension is o en associa ed
wi h severe PCV wi h visual loss.

DIFFERENTIAL DIAGNOSIS
Age-rela ed macular degenera ion wi h CNV
Cen ral serous choroidopa hy
Re inal pigmen epi helial de achmen

DIAGNOSTIC EVALUATION
Serosanguineous de achmen s o he
re ina and re inal pigmen epi helium may be
seen clinically (Fig. 2 13A).
Fluorescein angiography is usually no an
e ec ive imaging echnique, because he uorescence o he choriocapillaris o en masks
he vascular lesions (Fig. 2 13B, C).
Indocyanine green angiography, which
bet er images he choroid, o en provides he
bes visualiza ion o he ac ive lesions. OC
is use ul o ollow macular involvemen .

PROGNOSIS AND
MANAGEMENT
T e serosanguineous lesions may resolve
spon aneously wi hou progressing o f brous
proli era ion. T e vascular lesions may

Polypoidal Choroidal Vasculopa hy

involu e during periods o disease inac ivi y,


making diagnosis di cul . In con ras , he
vascular lesions may con inue o grow and
repea edly bleed. T ese lesions may hen
develop f brovascular scarring. Pa ien s may
su er severe visual loss. rea men or sysemic hyper ension, i associa ed wi h PCV,
may be impor an in limi ing he severi y o
he disease.
Laser pho ocoagula ion can be considered,
especially or serosanguineous complica ions
under he ovea. rea men o he ac ive polypoidal CNV or o he aneurysmal changes

65

ou side he ovea o en leads o regression


o he en ire lesion. T is is unlike he experience wi h CNV due o age-rela ed macular
degenera ion, in which he en ire lesion mus
be rea ed o preven ur her hemorrhagic
complica ions.
In ravi real an i-VEGF agen s have limi ed e ec iveness in PCV, al hough a rial
is o en u ilized wi h macular involvemen .
An i-VEGF herapy may have more e ec
as adjunc ive herapy o o her modali ies.
Ocular pho odynamic herapy may be considered or sub oveal lesions.

A
FIGURE 2-13. Polypoidal choroidal vasculopathy (PCV). A. Areas o serosanguineous re inal de achmen in
he macula ( arrows) .
(continued)

66

2 MACULAR DISEASES

C
FIGURE 2-13. ( Continued) Polypoidal choroidal vasculopathy (PCV). B. Venous lling phase f uorescein
angiogram showing ne work o branching choroidal vessels (arrows) . C. La e-phase f uorescein angiogram
showing leakage o dye in he choroid and erminal aneurysmal dila ions.

Degenera ive Myopia

DEGEN
D
EG
G E N ERA
E R A IVE
IV
VE MYO
MY
YO PIA
A

egenera ive myopia describes a re inal


degenera ive condi ion ha consis s o
hinning o he re inal pigmen epi helium and
choroid, re inal pigmen epi helial a rophy,
CNV, and subre inal hemorrhage in pa ien s
wi h progressive elonga ion o he eye rom
myopia usually grea er han 6 diop ers.

EPIDEMIOLOGY
AND ETIOLO GY
T e prevalence o degenera ive myopia
varies among di eren races and e hnic groups.
Degenera ive myopia is more prevalen in
women han in men.

HISTORY
Pa ien s wi h degenera ive myopia may
slowly lose cen ral vision due o progressive
a rophy o he macular region. More abrup
vision loss may occur rom macular subre inal
hemorrhage or CNV.
Spon aneous improvemen in vision may
occur i subre inal hemorrhage no associa ed
wi h CNV resorbs.

IMPORTANT
CLINICAL SIGNS
T e clinical f ndings o degenera ive
myopia are hough o be due o progressive
elonga ion o he globe. T e hallmark f nding is he so-called myopic crescen o re inal
pigmen epi helial a rophy adjacen o he
op ic nerve (Fig. 2 14A). T is a rophic area
is usually a he emporal aspec o he disc.
However, he a rophy may be loca ed anywhere around he circum erence o he disc
and may ex end hrough he cen ral macula.

67

T e disc i sel may be ver ically elonga ed or


il ed, or bo h (Fig. 2 14B).
Cen ral macular abnormali ies may lead
o visual loss. Gyra e areas o a rophy in
he pos erior pole may involve he oveal
region. Lacquer cracks, which are spon aneous linear breaks in Bruchs membrane, may
be loca ed in he ovea (see Fig. 2 14B).
Lacquer cracks are presen in 4% o highly
myopic eyes. Spon aneous subre inal hemorrhage wi hou CNV may arise rom lacquer
cracks (Fig. 2 14C). Fuchs spo s are round
areas o subre inal hyperpigmen a ion,
occasionally wi h surrounding a rophy, ha
are hough o represen areas o previous
subre inal hemorrhage or CNV. Fuchs spo s
are seen in 10% o highly myopic eyes a er
he age o 30.

ASSO CIATED
CLINICAL SIGNS
CNV develops in 5% o 10% o eyes
wi h an axial leng h grea er han 26.5 mm
(Fig. 2 14D). CNV is o en seen in associaion wi h lacquer cracks. Pos erior pole s aphyloma, an excava ion in he pos erior pole
associa ed wi h choriore inal a rophy, may be
presen (Fig. 2 14E).
Di use pigmen ary al era ion and pa chy
or di use areas o choriore inal degenera ion
may be presen in he re inal periphery
(Fig. 2 14F, G). PVD is more common and
occurs a an earlier age in pa ien s wi h degenera ive myopia. Al hough lat ice degenera ion
is no more common in degenera ive myopia,
pa ien s are a an increased risk o re inal ear
and re inal de achmen .

DIFFERENTIAL DIAGNOSIS
il ed disc syndrome
Op ic disc coloboma

68

2 MACULAR DISEASES

Presumed ocular his oplasmosis


Age-rela ed macular degenera ion
Gyra e a rophy

DIAGNOSTIC EVALUATION
His ory, re rac ive error, and axial leng h
measuremen in associa ion wi h he myriad
f ndings on oph halmoscopy all aid in he
diagnosis o degenera ive myopia.
Fluorescein angiography and OC are
help ul o assess or CNV.

PROGNOSIS AND
MANAGEMENT
T ere are no proven herapies o preven he progression o myopia and i s

degenera ive e ec s upon he re ina. Scleral


rein orcemen and resec ion echniques have
been repor ed o limi he elonga ion o he
globe, bu s abiliza ion or improvemen in
vision has no been decisively demons ra ed.
An i-VEGF herapy is e ec ive in rea ing eyes wi h myopic CNV. Laser pho ocoagula ion is a second line herapy, and
should be considered care ully as he CNV
o en remains small wi hou rea men .
Fur hermore, spreading o he a rophic
pho ocoagula ion lesion may lead o ur her
visual loss.
Ocular pho odynamic herapy wi h ver eporf n or sub oveal CNV may be use ul.
CNV lesions in degenera ive myopia, in
dis inc ion rom hose in age-rela ed macular
degenera ion, may remain s able wi hou signi ican visual loss when no rea men is applied.

A
FIGURE 2-14. Degenerative myopia. A. emporal myopic crescen . No e hinning o re inal pigmen
epi helium (inse reveals rue borders o op ic nerve) .
( continued)

Degenera ive Myopia

69

C
FIGURE 2-14. ( Continued) Degenerative myopia. B. Prominen il ed disc wi h emporal crescen and lacquer
crack above ovea ( arrow) . C. Spon aneous subre inal ( oveal) hemorrhage rom lacquer crack wi hou choroidal
neovasculariza ion (CNV).
( continued)

70

2 MACULAR DISEASES

E
FIGURE 2-14. ( Continued) Degenerative myopia. D. Sub oveal CNV ( arrow) wi h pigmen a ion and shallow
subre inal f uid. E. A pos erior s aphyloma is presen around he op ic nerve.
( continued)

Degenera ive Myopia

71

G
FIGURE 2-14. ( Continued) Degenerative myopia. F. Ex ensive choriore inal a rophy in pos erior pole and
periphery in he righ eye. G. Ex ensive choriore inal a rophy in pos erior pole and periphery in he le eye.

72

2 MACULAR DISEASES

AN
N GI
GIO
I O ID
D S RE
REAKS
E AKS
S

ngioid s reaks are red or brown irregular


lines ha radia e rom he op ic nerve
head. T ey represen breaks in hickened and
calcif ed Bruchs membrane.

EPIDEMIOLOGY
AND ETIOLO GY
Angioid s reaks are idiopa hic 50% o
he ime bu are also seen in associa ion
wi h cer ain sys emic diseases. T e sys emic
disease mos commonly associa ed wi h
angioid s reaks is pseudoxan homa elas icum,
or GrnbladS randberg syndrome. O her
sys emic condi ions associa ed wi h angioid
s reaks are Page s disease o bone, sickle cell
anemia, and EhlersDanlos syndrome.

HISTORY
Pa ien s are asymp oma ic unless hey
develop CNV in associa ion wi h heir angioid
s reaks. When CNV develops, pa ien s complain o decreased and dis or ed cen ral vision.

IMPORTANT
CLINICAL SIGNS
Angioid s reaks may appear as ligh redorange o dark red-brown. T e s reaks may
orm a concen ric ring around he op ic nerve
(Fig. 2 15). T ey may ex end hrough he
macula and in o he periphery. T ey may be
hin or our imes he wid h o re inal vessels. T ey are usually bila eral. Over ime he
s reaks may become more a rophic.

ASSO CIATED
CLINICAL SIGNS
CNV can be associa ed wi h angioid
s reaks (Fig. 2 16) and is he leading cause

o vision loss due o rup ure o he CNV, subre inal hemorrhage, and scarring (Fig. 2 17).
Pa ien s wi h pseudoxan homa elas icum
may have an addi ional undus f nding. T ere
may be a f ne s ippled appearance o he undus re erred o as peau dorange (like skin o
an orange) mos commonly seen in he emporal midperiphery (Fig. 2 18).
Pa ien s wi h his disease have abnormal
dermal elas ic issue. T ey have loose skin
olds in he neck and on he exor aspec s
o join s. T ey may su er cardiovascular
disease rom abnormal elas ic issue in
blood vessel walls. T ey may develop gasroin es inal bleeding.
Pa ien s wi h Page s disease (os ei is
de ormans) have abnormal bone des ruc ion
and orma ion. T ey ypically su er rom
headache, enlarged skull, enlarged digi s,
bone rac ures, and cardiovascular complicaions. Approxima ely 10% o pa ien s wi h
Page s disease develop angioid s reaks la e in
he course o heir disease. T ese pa ien s may
also su er visual loss rom op ic nerve compression by enlarging bone.
Angioid s reaks develop in 1% o 2% o
pa ien s wi h sickle cell hemoglobinopa hy.
Pa ien s wi h EhlersDanlos syndrome have
hyperelas ici y o he skin and hyper exibili y o he join s due o abnormal collagen
organiza ion.

DIFFERENTIAL DIAGNOSIS
rauma ic choroidal rup ure

DIAGNOSTIC EVALUATION
In he early phase o uorescein angiography angioid s reaks appear as hyper uorescen lines due o a rophy o he overlying
re inal pigmen epi helium. As in any condiion associa ed wi h disrup ion o Bruchs

Angioid S reaks

membrane, CNV may occur. ypical f ndings


o early hyper uorescence o CNV wi h leakage may be seen on uorescein angiography.

PROGNOSIS AND
MANAGEMENT
When pa ien s have angioid s reaks,
hey remain a risk or CNV. T ere are no
measures available o preven he developmen o CNV. I pa ien s develop ex ra oveal
or jux a oveal CNV, in ravi real an i-VEGF
and/ or s andard laser pho ocoagula ion
can be considered. Ocular pho odynamic

73

herapy may become use ul or pa ien s


wi h sub oveal CNV in associa ion wi h
angioid s reaks ha is resis an o an i-VEGF
herapy.
Pa ien s wi h angioid s reaks should be
par icularly cau ious regarding ocular rauma
(Fig. 2 19). Sa e y glasses should be worn
because hese pa ien s are more suscep ible o
choroidal rup ure and hemorrhage rom direc
blows o he eye. Pa ien s wi h angioid s reaks
should have a general medical evalua ion o
assess or sys emic associa ions, especially
because some o he mani es a ions, such as
cardiovascular disease and gas roin es inal
bleeding, are po en ially li e hrea ening.

FIGURE 2-15. Angioid streaks, orange streaks. Orange lines around he op ic nerve wi h ex ensions
hroughou he pos erior pole.

74

2 MACULAR DISEASES

B
FIGURE 2-16. Angioid streaks. A. Subre inal hemorrhage and re inal eleva ion adjacen o angioid
s reak is highly sugges ive o choroidal neovasculariza ion. B. Fluorescein angiogram con rms choroidal
neovasculariza ion.

Angioid S reaks

75

FIGURE 2-17. Angioid streaks, CNV. Severe macular scarring a er rup ure o CNV and hemorrhage (no e
peau dorange appearance emporally) .

A
FIGURE 2-18. Angioid streaks. A. Pigmen ed s reaks wi h subre inal hemorrhage.
( continued)

76

2 MACULAR DISEASES

B
FIGURE 2-18. ( Continued) Angioid streaks. B. Peau dorange appearance in he emporal periphery.

A
FIGURE 2-19. Angioid streaks, traumatic subretinal hemorrhage. Pa ien wi h bila eral angioid s reaks
( A, righ eye; B, le eye) was punched in he le eye and su ered ex ensive subre inal hemorrhage. T e
subre inal hemorrhage even ually resolved, bu le severe scarring (C) and visual loss.
(continued)

Angioid S reaks

C
FIGURE 2-19. ( Continued)

77

78

2 MACULAR DISEASES

CE
CEN
E N RAL
R AL SERO
SE
E R O US
S
RE
E IN
I N O PA
PA H Y

SR is a disease in which a circumscribed


serous de achmen o he neurosensory
re ina develops, usually conf ned o he poserior pole. T ere may be an associa ed serous
de achmen o he re inal pigmen epi helium.
CSR is usually an idiopa hic condi ion bu may
be seen in he set ing o cor icos eroid use.

EPIDEMIOLOGY
AND ETIOLO GY
CSR usually occurs in heal hy young o
middle-aged men, al hough women may also be
a ec ed. T e exac e iology o CSR is unknown.
A di use abnormali y o he re inal pigmen
epi helium and choroid is likely because uid
resorp ion is impaired. Recen evidence indica es a possible link o ac ive gas roin es inal
Helicobacter pylori in ec ion, al hough his associa ion needs o be subs an ia ed.
CSR is repor edly more common in
pa ien s wi h a so-called ype A personali y.
Pa ien s being rea ed wi h cor icos eroids
can have par icularly severe CSR.

HISTORY
Pa ien s may be asymp oma ic unless
he cen ral macula is involved. Symp oma ic
pa ien s experience sudden onse o
decreased cen ral vision wi h me amorphopsia. T ere may be macropsia or micropsia.
Color vision is o en a ec ed, and pa ien s
may no ice a rela ive sco oma.

IMPORTANT CLINICAL
SIGNS
On undus examina ion pa ien s will
have an eleva ion in he macula due o

serous de achmen (Fig. 2 20). Pa ien s


wi h chronic or recurren episodes may
have pa ches o re inal pigmen epi helial
a rophy.

ASSO CIATED
CLINICAL SIGNS
T ere may be yellow spo s; subre inal precipi a es o f brin deep o he de ached re ina
(Fig. 2 21).
O en pa ien s will have pigmen epi helial
clumping rom prior episodes in ei her he
involved or he ellow eye, or bo h (Fig. 2 22).
Occasionally pa ien s will have an associa ed serous de achmen o he re inal pigmen
epi helium (Fig. 2 23).
Rarely pa ien s will have di use de achmen o he pos erior pole wi h gravi y-dependen pooling o uid in eriorly (Fig. 2 24).
T is may lead o gut ers o re inal pigmen
epi helial al era ions crea ed by subre inal
uid ha gravi a es in eriorly.

DIFFERENTIAL DIAGNOSIS
CNV, especially in older pa ien s
Op ic nerve pi wi h neurosensory macular
re inal de achmen
Pos erior scleri is
Haradas disease
Rhegma ogenous re inal de achmen
Circumscribed choroidal hemangioma
Amelano ic choroidal melanoma

DIAGNOSTIC EVALUATION
A varie y o uorescein angiographic
al era ions may be seen in CSR. An expanding do o hyper uorescence is he mos common al era ion (Fig. 2 25). As he angiogram

Cen ral Serous Re inopa hy

progresses, here is a spo o increasing hyperuorescence a he level o he re inal pigmen


epi helium. In he la e phase o he s udy,
here is pooling o dye in he neurosensory
de achmen .
Ano her less common pat ern o hyper uorescence is a smokes ack appearance in which
dye spreads ver ically rom he re inal pigmen
epi helium (Fig. 2 26A D). Occasionally, muliple leakage spo s will be seen.

PROGNOSIS AND
MANAGEMENT
Implica ed cor icos eroids should be
immedia ely discon inued. Mos pa ien s
undergo spon aneous resolu ion in 1 o 3
mon hs. However, here may be mild residual
symp oms, including decreased cen ral acui y,

79

reduced con ras sensi ivi y, decreased color


vision, and me amorphopsia. Rarely, pa ien s
have severe visual loss. Recurrences happen in
20% o 40% o pa ien s.
I pa ien s have persis en decreased
vision wi h persis en uid beyond 3 o
4 mon hs, pho ocoagula ion can be o ered o
he leak spo seen on uorescein angiography
(Fig. 2 26E).
Al erna ively, here has been recen success
wi h he use o in ravi real an i-VEGF agen s
or he rea men o persis en CSR. For unresponsive sub oveal lesions, pho odynamic
herapy can be considered. Pa ien s wi h occupa ional needs or improved vision or re urn
o s ereoacui y can be considered or earlier
rea men . Care ul ollow-up a er laser pho ocoagula ion is necessary because pa ien s may
develop CNV a he rea men si e.

FIGURE 2-20. Central serous retinopathy, serous macular detachment. Serous re inal de achmen in he
macula.

80

2 MACULAR DISEASES

FIGURE 2-21. Central serous retinopathy, f brin ormation. Subre inal brin precipi a ion in serous
de achmen o he macula ( arrow) .

FIGURE 2-22. Central serous retinopathy, retinal pigment epithelial alterations. Re inal pigmen epi helial
clumping in he macula ollowing resolu ion o serous de achmen (inse ) .

Cen ral Serous Re inopa hy

81

B
FIGURE 2-23. Central serous retinopathy. A. Earlier phase o disease in same pa ien as in Fig. 2-22. No e
serous de achmen o he re inal pigmen epi helial supero emporal o he op ic nerve and brin accumula ion
in he serous de achmen o he macula. B. Fluorescein angiogram con rms serous de achmen o re inal
pigmen epi helium adjacen o op ic nerve.

82

2 MACULAR DISEASES

B
FIGURE 2-24. Central serous retinopathy. A and B. Pa ien wi h recurren CSR (no e small serous de achmen
o macula) who had prior episode(s) o serous de achmen ha led o gravi y-dependen pooling o f uid in eriorly
as evidenced by re inal pigmen epi helial al era ions ex ending in o he in erior periphery.
( continued)

Cen ral Serous Re inopa hy

D
FIGURE 2-24. ( Continued) Central serous retinopathy. C and D. Fluorescein angiogram showing
hyperf uorescence ex ending rom he macula o he in erior periphery due o re inal pigmen epi helial
al era ions rom f uid pooling.

83

84

2 MACULAR DISEASES

B
FIGURE 2-25. Central serous retinopathy. A. Large serous de achmen o he macula wi h brin under re ina.
B, C and D. Progressive enlargemen o spo o hyperf uorescence on f uorescein angiography ( arrow) .
( continued)

Cen ral Serous Re inopa hy

D
FIGURE 2-25. ( Continued)

85

86

2 MACULAR DISEASES

B
FIGURE 2-26. Central serous retinopathy, smokestack leakage. A. Small serous de achmen o he macula
wi h re inal pigmen epi helial al era ions. B and C. Smokes ack appearance o dye leakage on f uorescein
angiography.
(continued)

Cen ral Serous Re inopa hy

87

D
FIGURE 2-26. ( Continued) Central serous retinopathy, smokestack leakage. D. Fluorescein angiogram
showing mul iple leakage spo s o bo h he expanding do and smokes ack ype o leakage.
( continued)

88

2 MACULAR DISEASES

E
FIGURE 2-26. ( Continued) Central serous retinopathy, postlaser treatment. E. en weeks a er laser
pho ocoagula ion. T ere is comple e resolu ion o subre inal f uid bu residual re inal pigmen epi helial
al era ions. Vision improved rom 6/ 30 o 6/ 9.

Choroidal Folds

CH
H O RO
R O IDAL
ID
D AL FO
OL
LDS
DS
S

olding or wrinkling o he inner choroid,


Bruchs membrane, re inal pigmen epihelium, and inner re ina is known as choroidal or choriore inal olds.

EPIDEMIOLOGY
AND ETIOLO GY
Choroidal olds are usually idiopa hic, bu
hey can be seen in associa ion wi h o her
ocular abnormali ies, including:
Hyperopia
Orbi al umors
Pos erior scleri is
Scleral buckling surgery
Choroidal umors
Hypo ony
CNV
Choriore inal scarring
T ey may be unila eral or bila eral.

HISTORY
Pa ien s wi h long-s anding choroidal olds
are usually en irely asymp oma ic. T ose wi h
acu e onse o olds are usually symp oma ic,
wi h decreased vision and me amorphopsia.

89

IMPORTANT
CLINICAL SIGNS
Al erna ing ligh and dark s reaks are
seen in he pos erior pole in pa ien s wi h
choroidal olds (Fig. 2 27A). T e olds may
be horizon al, ver ical, or oblique in orien aion (Fig. 2 27B).

ASSO CIATED
CLINICAL SIGNS
T ere may be no associa ed f ndings i he
olds are idiopa hic or associa ed wi h hyperopia. I here is ano her ocular condi ion, hen
here may be addi ional signs rela ed o he
cause o he olds, such as prop osis in associa ion wi h an orbi al umor.

DIFFERENTIAL DIAGNOSIS
Re inal olds (e.g., rom macular epire inal
membrane or re inal de achmen )

DIAGNOSTIC EVALUATION
On uorescein angiography, al erna ing
hyper uorescen and hypo uorescen bands
are seen. T e cres s o he olds are hyperuorescen , and he roughs hypo uorescen
(Fig. 2 27C).

90

2 MACULAR DISEASES

B
FIGURE 2-27. Choroidal olds. A. Al erna ing ligh and dark s reaks hrough he macula. B. Obliquely
orien ed al erna ing ligh and dark s reaks above he macula.
( continued)

Choroidal Folds

91

C
FIGURE 2-27. ( Continued) Choroidal olds. C. Fluorescein angiogram showing al erna ing hyperf uorescen
and hypof uorescen bands.

92

2 MACULAR DISEASES

H YP
YPO
PO ONY
MACULO
M
AC
C U L O PA
PA H Y
Hypo ony maculopa hy is a condi ion
in which choriore inal olds develop in he
pos erior pole o pa ien s wi h chronically low
in raocular pressure.

EPIDEMIOLOGY
AND ETIOLO GY
Pa ien s wi h chronically low in raocular
pressure rom a wound leak, cyclodialysis
cle , or excessive f l ering a er glaucoma surgery may develop secondary re inal changes.

HISTORY
Pa ien s will experience loss o cen ral
vision rom he choriore inal olds.

IMPORTANT
CLINICAL SIGNS
Broad choriore inal olds radia e ou emporally rom he op ic nerve in a branching
ashion (Fig. 2 28). Nasally he olds are usually arranged concen ric o he op ic nerve or
have an irregular arrangemen .
T e macular re ina may be hrown in o
radia ing olds around he ovea dis inc rom
he choroidal olds.
T e peripapillary choroid is o en swollen,
mimicking op ic disc edema.

ASSO CIATED
CLINICAL SIGNS
T e in raocular pressure will be low, usually less han 5 mm Hg. T ere may be an erior

segmen signs consis en wi h surgery or


rauma.

DIFFERENTIAL DIAGNOSIS
Choriore inal olds rom o her causes:
Idiopa hic
Hyperopia
Orbi al umors
Pos erior scleri is
Scleral buckling surgery
Choroidal umors
Hypo ony
CNV
Choriore inal scarring

DIAGNOSTIC EVALUATION
Fluorescein angiography will demons ra e
al erna ing hypo uorescen and hyper uorescen lines corresponding o he olds. Op ic
disc hyper uorescence and macular leakage
may be observed.
OC is help ul in diagnosing pa ien s
wi h reduced vision and an o herwise normal
exam. OC may reveal he re inal olds or
macular edema.

PROGNOSIS AND
MANAGEMENT
Surgical correc ion o he underlying cause
o hypo ony maculopa hy will usually resul
in resolu ion o he olds and visual improvemen . Long-s anding olds may resolve wi h
rea men , bu here may be residual linear
re inal pigmen epi helial al era ions rom
he chronic olding o he re inal pigmen
epi helium.

Hypo ony Maculopa hy

93

FIGURE 2-28. Hypotony maculopathy. Horizon al and oblique macular olds in a pa ien wi h hypo ony
maculopa hy a er glaucoma surgery.

C H AP

ER

Diabe ic Re inopa hy
James F. Vander

DIABE
D
DI
IA
AB
BE IC
IC R
RE
E IN
N O PA
PA H Y

iabe ic re inopa hy encompasses a broad


range o undus mani es a ions o diabe es melli us. T is is a clinical erm ha
includes exuda ive, hemorrhagic, ischemic,
proli era ive, and rac ional mani es a ions o
his re inal vascular disease. I can be arbi rarily
divided in o a nonproli era ive and a proli era ive orm.

EPIDEMIOLOGY
AND ETIOLO GY
Diabe ic re inopa hy is he leading cause
o blindness in he Uni ed S a es and Wes ern
Europe among adul s less han age 55 years.
I af ec s bo h genders and all races, al hough
A rican Americans are more requen ly and
more severely af ec ed han Caucasians.
T e bes predic or o diabe ic re inopa hy
is he dura ion o disease. For ype 1 diabe ic
pa ien s here is no risk o re inopa hy or
roughly 5 years a er ini ial diagnosis. Some
re inopa hy is presen in up o 50% o pa ien s
10 years a er diagnosis. A er 15 years, 95% o
94

pa ien s show some re inopa hy. Proli era ive


re inopa hy is very uncommon wi h less han
10 years dura ion o disease. For y percen o
pa ien s have proli era ive disease by 25 years.
T e rend or ype 2 diabe ic pa ien s is
very similar. Many pa ien s will have asympoma ic, occul diabe es or many years prior
o diagnosis, however, and here ore may
presen wi h re inopa hy even a he ime o
diagnosis o diabe es melli us.
Age is ano her impor an risk ac or in he
prevalence o diabe ic re inopa hy. Diabe ic
re inopa hy is very rare prior o puber y.
I s prevalence increases drama ically a er
puber y, however, and over 50% o pa ien s
will develop re inopa hy by heir early
wen ies.

PATHOPHYSIOLOGY
Hyperglycemia is a key ac or in he
developmen o diabe ic re inopa hy. T e
mechanism o re inopa hy developmen may
be rela ed o:
Rela ive hypercoagulabili y
Red blood cell abnormali ies

Nonproli era ive Diabe ic Re inopa hy

Excessive glycosyla ion o pro eins


Enzyma ic conversion o excessive
glucose by aldose reduc ase
His opa hologically, hickening o re inal
capillary basemen membranes and loss o
pericy es have been shown consis en ly.

HISTORY
Pa ien s are o en asymp oma ic bu may
have blurry vision or oa ers. More ex ensive
visual loss occurs wi h large vi reous hemorrhages or re inal de achmen .

NONP
PRO
RO
OL
LIFERA
IFE
E R A IV
IVE
VE
DIABE
D
IAB
BE IIC
C RE
E IN
NOP
PA
A HY
IMPORTANT
CLINICAL SIGNS
Nonproliferative Diabetic retinopathy
(NPDR) is he pre erred erm or his less
severe mani es a ion o diabe ic re inopa hy.
I may be arbi rarily subdivided in o mild,
modera e, and severe ca egories.
Mild Nonproliferative Diabetic Retinopathy
Earlies undus mani es a ions o diabe ic
re inopa hy. Fea ures re ec re inal capillary
hyperpermeabili y. May be mani es ed as:
In rare inal hemorrhagedo hemorrhages are small mid-level re inal hemorrhages (Fig. 3-1).
Blo hemorrhageslarger, wi h uzzier
borders.
Flame-shaped hemorrhagessuper cial in he nerve ber layer.
Microaneurysmssaccular enlargemen o re inal capillaries.
Lipopro ein exuda ionalso known
as hard yellow exuda e (HYE; Figs. 3-2
and 3-3).

95

Macular edema he mos common


reason or legal blindness resul ing rom
diabe ic re inopa hy. I is bes apprecia ed
as macular hickening by he use o a high
magni ca ion sli -lamp examina ion using
a hand held or con ac lens providing a
good s ereoscopic view (Fig. 3-4).
Moderate Nonproliferative Diabetic
Retinopathy
T is degree o re inopa hy is charac erized
by increased number and size o in rare inal
hemorrhaging wi h grea er evidence or exuda ion as mani es ed by more HYE (Fig. 3-5)
and macular edema han is presen in mild
nonproli era ive re inopa hy. (S andardized
pho ographs exis o es ablish he ransi ion
poin s be ween he various s ages o nonproli era ive re inopa hy, bu i should be
remembered ha his classi ca ion re ec s a
con inuum o disease severi y.) In modera e
nonproli era ive re inopa hy one also begins
o see evidence o capillary occlusive disease.
T is is re ec ed by he developmen o :
Cot on-wool spo s (Fig. 3-6)
Venous dila ion and beading (Fig. 3-7)
In rare inal microvascular abnormali y
(IRMA) a , in rare inal, irregular blood
vessel. (I is some imes di cul o dis inguish be ween IRMA and neovascularizaion o he re ina. Fluorescein angiography
can be help ul in making his dis inc ion;
Fig. 3-8B.)
Vision loss in modera e NPDR may be he
resul o macular edema or, less requen ly,
loss o some o he normal peri oveolar capillary bed. Frequen ly, bo h problems may be
presen .
Severe Nonproliferative Retinopathy
In severe NPDR here is worsening o he
exuda ive aspec o diabe ic re inopa hy and,
especially, evidence or capillary occlusive
changes. More ex ensive in rare inal hemorrhaging, venous beading, IRMA, as well

96

3 DIABE IC RE INO PA H Y

TABLE 3-1. 4-2-1 Rule


T e presence o :
Severe re inal hemorrhages in 4 quadran s
or
Venous beading in 2 quadran s
or
IRMAin 1 quadran
Indica es a 50%risk o developing proli era ive
re inopa hy wi hin 1 year

as edema and exuda e are he ea ures ha


de ne severe nonproli era ive re inopa hy
(Figs. 3-8 to 3-10). T e presence o cer ain
undus ea ures predic s he progression
oward proli era ive re inopa hy (Table 3-1).

ASSO CIATED
CLINICAL SIGNS
Corneadecrease o corneal sensi ivi y;
increased risk abrasion
Ca arac ypically nuclear and cor ical
ca arac orma ion is chronic and progressive;
acu e cor ical ca arac orma ion wi h proound eleva ions in blood glucose
Glaucomagrea er incidence o primary
open-angle glaucoma
Cranial nerve palsyisola ed palsy, mos
o en six h

Ocular ischemic syndrome


Radia ion re inopa hy (Fig. 3-12)
Idiopa hic jux a oveal elangiec asis
Coa s disease
Vasculi is (e.g., sarcoidosis, lupus)

DIAGNOSTIC EVALUATION
T e mos impor an aspec o he evalua ion o NPDR is a magni ed, s ereoscopic,
sli -lamp biomicroscopic examina ion o
he pos erior pole and midperipheral re ina
using a handheld indirec lens or con ac
lens. A cri ical de ermina ion is he presence
or absence o clinically signi can macular
edema (CSME; Table 3-2).
Fluorescein angiography is a valuable ancillary es in evalua ion o NPDR.
Indica ions include:
De ermina ion o loca ion o ocal
and dif use leakage o guide rea men
(Fig. 3-13)
Rule ou loss o peri oveal capillaries
Mechanism or unexplained vision loss
Risk ac or or vision loss a er ocal
laser
Rule ou vasculi is or o her diagnos ic
possibili ies
TABLE 3-2. Clinically Signif can
Macular Edema (CSME)

DIFFERENTIAL DIAGNOSIS

Re inal hickening wi hin 500 m cen er o ovea

O her causes o re inal capillary leakage


and occlusion include:
Hyper ensive re inopa hy
Re inal vein occlusion (branch or
cen ral) (Fig. 3-11)
Hemoglobinopa hies
Anemia or leukemia

Exuda e wi hin 500 m cen er o ovea wi h adjacen


hickening

or

or
T ickening o a leas one disc area any par wi hin
one disc diame er o cen er o ovea
Note: CSME is a diagnosis based on s ereoscopic macular
viewing independen o visual acui y or fuorescein
angiography.

Nonproli era ive Diabe ic Re inopa hy

Op ical coherence omography (OC )


is ano her ancillary es ha is impor an in
managing diabe ic macular edema. OC provides a noncon ras , pho ographic me hod or
de ermining he presence o uid wi hin and
under he re ina, quan i ying he ex en o
ha uid and moni or he response o herapy
(Fig. 3-14).

PROGNOSIS AND
MANAGEMENT
NPDR ends o progress gradually over
mon hs o years. T e risk o vision loss
increases wi h increasing severi y o re inopahy. rea men o sys emic disease reduces
bu does no elimina e he risk o progression
and vision loss (Table 3-3). Newer medicaions under developmen may ac ually reverse
re inopa hy.
Ocular rea men consis s o macular
laser pho ocoagula ion or macular edema
(Fig. 3-15). Early rea men diabe ic re inopa hy s udy (E DRS) guidelines are widely
applied (Table 3-4). T e u ili y and iming o
re rea men , he role o early rea men be ore
E DRS hreshold is reached, and he applicaion o al erna ive rea men s ra egies are less
uni ormly accep ed.
T e E DRS addressed hree ques ions:
1. Wha is he role o aspirin in diabe ic re inopa hy? Answer: I nei her
improves nor worsens re inopa hy.
TABLE 3-3. Diabe es Con rol and
Complica ions rial (DCC )
DCC showed ha igh ened blood glucose con rol
reduces:
Developmen o re inopa hy by 76%
Progression o re inopa hy by 80%
Risk o nephropa hy by abou 60%
Risk o neuropa hy by abou 60%

97

TABLE 3-4. Early rea men Diabe ic


Re inopa hy S udy (E DRS) Fac s
E DRS rea men o macular edema:
Generally s abilizes visual acui y bu o en does
no improve i
Consis s o direc ly rea ing ocal areas o leakage
and placing a grid in areas o di use capillary
leakage; de ermina ion o rea men placemen
is generally guided by he use o a fuorescein
angiogram
Should be avoided in he presence o signi can
loss o peri oveal capillaries
May ake mon hs o show resolu ion o hickening
and longer or exuda es

2. Wha is he role o ini ia ing early laser


(as compared o DRS high-risk cri eria;
Table 3-5) in he managemen o severe
nonproli era ive and early proli era ive
re inopa hy? Answer: Inconclusive. No
s rong bene o early scat er panre inal
pho ocoagula ion (PRP) was ound.
Cer ain clinical circums ances (e.g.,
poor compliance wi h ollow-up examina ions, rapid progression in ellow eye)
may jus i y early ini ia ion o PRP.
3. Wha is he role o laser (PRP or ocal
macular laser, or bo h) in he managemen o macular edema? Answer: T ere
is no role or PRP in rea men o macular edema. Macular laser is o bene ,
reducing he risk o modera e visual loss
by 50%. Pa ien s wi h CSME should be
rea ed.
TABLE 3-5. Diabe ic Re inopa hy
Clinical Research (DRCR)
Macular laser pho ocoagula ion is superior o
repea ed in ravi real injec ion o riamcinolone
ace onide or primary rea men o macular edema
in general.
Ranibizumab injec ions are as good (? bet er) as
laser or rea men o CSME a 1 year

98

3 DIABE IC RE INO PA H Y

More recen ly, he use o in ravi real injecion o pharmacologic agen s has provided
an al erna ive me hod or rea ing macular
edema. T e diabe ic re inopa hy clinical
research (DRCR) s udies have assessed he
u ili y o some o hese agen s (Table 3-5).
In ravi real riamcinolone ace onide causes
a rapid reduc ion o macular edema and
subre inal uid in mos cases. T e ef ec is
generally emporary and side ef ec s include
ca arac progression and eleva ion o in raocular pressure, some imes markedly. DRCR

resul s sugges ha s eroid injec ion is no as


ef ec ive as macular laser or primary rea men o edema.
More recen ly, injec ion o an i-VEGF
agen s bevacizumab and ranibizumab have
shown a s rong posi ive herapeu ic ef ec
wi h repea ed injec ions (Fig. 3-16). T e
DRCR preliminary resul s sugges ha ranibizumab may be superior o ocal laser as primary rea men , a leas or 12 mon hs. T ese
indica ions are evolving.

Nonproli era ive Diabe ic Re inopa hy

B
FIGURE 3-1. Minimal nonproli era ive diabe ic re inopa hy (NPDR) .

99

100

3 DIABE IC RE INO PA H Y

FIGURE 3-2. NPDR wi h re inal hemorrhages and hard yellow exuda es (HYEs) .

FIGURE 3-3. Sub le HYE near ovea in NPDR.

Nonproli era ive Diabe ic Re inopa hy

101

B
FIGURE 3-4. A. Re inal hemorrhages, HYE, and edema in NPDR. B. Venous phase in ravenous uorescein
angiogram (IVFA) showing numerous microaneurysms seen as pinpoin do s o hyper uorescence.
(continued)

102

3 DIABE IC RE INO PA H Y

D
FIGURE 3-4. ( Continued) C. Leakage rom microaneurysms wi h obscura ion o hyper uorescen do s.
D. La er phase showing more ex ensive leakage.

Nonproli era ive Diabe ic Re inopa hy

FIGURE 3-5. Macular edema and HYE wi h blun ing o oveal re ex.

FIGURE 3-6. Cot on-wool spo s as well as hemorrhage and HYE.

103

104

3 DIABE IC RE INO PA H Y

FIGURE 3-7. Venous beading ( arrow) indica ing more severe NPDR.

A
FIGURE 3-8. A. Severe NPDR.
(continued)

Nonproli era ive Diabe ic Re inopa hy

105

C
FIGURE 3-8. ( Continued) B. IVFA shows numerous microaneurysms and pa ches o capillary nonper usion
(arrowhead). No e abnormal vessels (in rare inal microvascular abnormali y, IRMA) along supero emporal
arcade ( arrowhead). C. High-powered view o IRMA seen in B. Absence o leakage dis inguishes IRMA rom
neovasculariza ion.

106

3 DIABE IC RE INO PA H Y

FIGURE 3-9. Sausaging o re inal venules ( arrow) seen in severe NPDR.

FIGURE 3-10. Venous loop.

Nonproli era ive Diabe ic Re inopa hy

107

FIGURE 3-11. Hemorrhages and cot on-wool spo s in branch re inal vein obs ruc ion. No e he segmen al
dis ribu ion o he undus abnormali ies.

FIGURE 3-12. Numerous cot on-wool spo s wi h a ew hemorrhages in a nondiabe ic pa ien wi h a his ory o
prior radia ion or rea men o a brain umor.

108

3 DIABE IC RE INO PA H Y

B
FIGURE 3-13. A. Re inal hemorrhages wi h mild macular edema. B. Enlargemen o he oveal avascular zone
wi h microaneurysms near he cen er o he macula (inse ).
( continued)

Nonproli era ive Diabe ic Re inopa hy

C
FIGURE 3-13. ( Continued) C. La e leakage rom he microaneurysms.

FIGURE 3-14. OC shows cys ic edema in cen ral macula.

109

110

3 DIABE IC RE INO PA H Y

B
FIGURE 3-15. A. Macular edema and HYE in NPDR. B. Several mon hs a er laser rea men , resolu ion o
edema and HYE is seen.

Nonproli era ive Diabe ic Re inopa hy

111

B
FIGURE 3-16. A. OC shows cys ic macular edema. B. One week a er in ravi real bevacizumab here is
marked reduc ion in macular hickening.

112

3 DIABE IC RE INO PA H Y

PR
PRO
R O LIF
LIFERA
F E RA
A IVE
IV
VE DI
DIABE
I AB
BE IC
C
RE
E IN O PA
A HY

roli era ive diabe ic re inopa hy (PDR)


represen s he mos severe mani es a ion
o diabe es in he eye. I is he resul o he
loss o normal re inal per usion and he subsequen developmen o neovascular proli eraive issue in he undus. T e developmen o
his neovascular issue re ec s an al era ion
in he balance be ween angiogenesis inhibiors and s imula ors in he re ina and vi reous.
Mul iple local chemical media ors (cy okines)
are believed o be a work.

IMPORTANT
CLINICAL SIGNS
Neovascularization of the disc (NVD):
Neovasculariza ion ha develops on he
sur ace o he op ic nerve or wi hin one disc
diame er o he op ic nerve is de ned as NVD
(Figs. 3-17 to 3-19; see also Fig. 3-21).
Shun vessels ha may develop on he op ic
disc (e.g., a er a re inal venous obs rucion) may be easily con used wi h NVD.
Neovasculariza ion o he disc ypically has a
lacy irregular appearance and may be eleva ed
above he op ic nerve sur ace. rue NVD
should be dis inguished rom he hyperemic
disc swelling o diabe ic papillopa hy.
Neovascularization elsewhere (NVE):
T is erm re ers o re inal neovascularizaion anywhere in he undus ha is no NVD
(Figs. 3-20 and 3-21). Neovasculariza ion
elsewhere in PDR ends o occur in he
pos erior pole or midperiphery, al hough
ex reme peripheral NVE can also develop.
Neovasculariza ion elsewhere ends o
orm a he junc ion be ween per used and
nonper used re ina, and his can be readily
apprecia ed wi h uorescein angiography.
Neovascularization of the iris (NVI):
Developmen o NVI is an ominous sign

(Fig. 3-22). Involvemen o he an erior


chamber angle can produce neovascular glaucoma (NVG), leading o a blind, pain ul eye.
Vitreous hemorrhage: Bleeding rom
NVD or NVE may occur and produce prere inal or vi reous hemorrhage. Vi reous hemorrhage is more likely when NVD and NVE
are more ex ensive. Hemorrhages are usually
spon aneous and produce a sudden developmen o oa ers. Prere inal hemorrhage
re ec s seques ra ion o blood be ween he
inner re inal sur ace and an in ac pos erior
hyaloid ace (Fig. 3-23). T ere ore, his will
generally occur in younger pa ien s. T is may
produce a dense, well-circumscribed sco oma
(Figs. 3-24 and 3-25). O en prere inal hemorrhage will subsequen ly break apar and
produce more dif use oa ers charac eris ic o
vi reous hemorrhage (Figs. 3-26 and 3-27).
Vi reous hemorrhage is o en recurren and
can produce pro ound visual loss.

MANAGEMENT
T e rea men o proli era ive re inopa hy
is guided by he diabe ic re inopa hy s udy
(DRS; Tables 3-6 and 3-7). Laser PRP as

TABLE 3-6. Diabe ic Re inopa hy


S udy (DRS)
DRS showed:
Risk ea ures or severe visual loss (de ned as
visual acui y o 5/ 200 or worse) are:
NVD > o o disc area
Any NVD wi h associa ed VH
NVE wi h associa ed VH
T ese ea ures are known as high-risk characteristics (HRC). Pa ien s wi h HRC rea ed wi h
PRP have a 50%reduc ion in risk o severe visual loss.
NVD, neovasculariza ion o he disc; NVE, neovasculariza ion
elsewhere; PRP, panre inal pho ocoagula ion; VH, vi reous
hemorrhage.

Proli era ive Diabe ic Re inopa hy

TABLE 3-7. Panre inal Pho ocoagula ion


(PRP) Fac s
PRP:
Does no improve visual acui y
May cause worsening macular edema, and loss o
peripheral vision and nigh vision
Indica ions or supplemen a ion are uncer ain
Does no always cause regression o NVD/ NVE
Is also indica ed in pa ien s wi h NVI rom PDR
even in he absence o NVD/ NVE
NVD, neovasculariza ion o he disc; NVE, neovasculariza ion
elsewhere; NVI, neovasculariza ion o he iris; PDR,
proli era ive diabe ic re inopa hy.

es ablished by he DRS is he rea men o


choice (Figs. 3-28 to 3-30).
For eyes wi h more advanced nonclearing
vi reous hemorrhage or brovascular scarring, or bo h, vi rec omy may be indica ed.
In ravi real injec ion o an i-VEGF agen s will
induce rapid regression o neovasculariza ion.
T is approach may be u ilized as primary
rea men , in conjunc ion wi h laser pho ocoagula ion or as a pre-opera ive adjunc o
an icipa ed vi rec omy surgery.
Macular Ischemia
T ere is no ef ec ive rea men or diabe ic
macular ischemia. T is condi ion more commonly occurs in eyes wi h PDR bu may be
observed in associa ion wi h nonproli era ive
disease as well. Irregular enlargemen o he
oveal avascular zone on uorescein angiography is observed (Fig. 3-31).
Retinal Detachment
T e developmen o neovascular issue produces an unusually s rong adhesion

113

be ween he vi reous and re ina. Wi h


con rac ion o he vi reous as well as he
brovascular proli era ive issue, increasing
rac ion on he re ina will develop. Su cien
rac ion may ul ima ely lead o a re inal
de achmen . A rac ion re inal de achmen
ypically has a concave, immobile appearance
wi h re inal s riae radia ing rom he areas
o grea es rac ion. When rac ion re inal
de achmen af ec s he macula, severe visual
loss is no ed.
Combined rac ion and rhegma ogenous
re inal de achmen may develop i vi reous
rac ion is severe enough o produce a ullhickness re inal break. Combined re inal
de achmen s end o develop more rapidly
han purely rac ional re inal de achmen s.
T e re ina appears more mobile wi h corruga ions and undula ions no ed wi h eye
movemen .
Indications for Vitrectomy in Proliferative
Diabetic Retinopathy
De ni e
Persis en or recurren vi reous hemorrhage (see Figs. 3-25 and 3-26)
rac ion macular de achmen (Figs. 3-32
and 3-33)
Combined rac ion and rhegma ogenous re inal de achmen (Fig. 3-34)
Possible
Severe proli era ion unresponsive o
PRP (Fig. 3-35)
rac ion de achmen hrea ening he
macula
Persis en macular edema wi h au poserior hyaloid ace

114

3 DIABE IC RE INO PA H Y

FIGURE 3-17. Neovasculariza ion o he disc (NVD) . Modera ely severe NVD as def ned in he Diabe ic
Re inopa hy S udy. (S andard Pho o 10A, cour esy o he Diabe ic Re inopa hy S udy Group.)

FIGURE 3-18. Severe eleva ed NVD.

Proli era ive Diabe ic Re inopa hy

115

B
FIGURE 3-19. A. Proli era ive diabe ic re inopa hy (PDR) wi h macular edema, HYE, and NVD. B. IVFA
conf rming NVD and enlarged irregular oveal avascular zone.
( continued)

116

3 DIABE IC RE INO PA H Y

C
FIGURE 3-19. ( Continued) C. La e phase showing marked leakage rom NVD and severe macular edema.

A
FIGURE 3-20. A. Pa ches o neovasculariza ion elsewhere (NVE) . No e he bland appearance o he undus
peripheral o he NVE.
( continued)

Proli era ive Diabe ic Re inopa hy

117

C
FIGURE 3-20. ( Continued) B. Macular view on IVFA demons ra es microaneurysms bu minimal ischemia.
C. Hyper uorescence o he NVE.
( continued)

118

3 DIABE IC RE INO PA H Y

D
FIGURE 3-20. ( Continued) D. No e he marked capillary nonper usion peripheral o he NVE.

A
FIGURE 3-21. A. PDR wi h NVD and NVE ( arrows) .
(continued)

Proli era ive Diabe ic Re inopa hy

119

C
FIGURE 3-21. ( Continued) B. IVFA showing hyper uorescence o NVD and NVE. No e he irregular capillary
bed in he cen ral macula (inse ) . C. Marked hyper uorescence o NVE wi h peripheral nonper usion.
(continued)

120

3 DIABE IC RE INO PA H Y

D
FIGURE 3-21. ( Continued) D. Marked la e hyper uorescence rom leaking NVD and NVE wi h macular
edema.

FIGURE 3-22. Neovasculariza ion o he iris in PDR seen hrough a gonioscopic mirror.

Proli era ive Diabe ic Re inopa hy

FIGURE 3-23. Mild vi reous hemorrhage in PDR.

FIGURE 3-24. Large prere inal hemorrhage in PDR resul ing in a large, dense sco oma.

121

122

3 DIABE IC RE INO PA H Y

FIGURE 3-25. Boa -shaped prere inal hemorrhage in PDR.

FIGURE 3-26. More dense vi reous hemorrhage.

Proli era ive Diabe ic Re inopa hy

123

B
FIGURE 3-27. A. Early-phase IVFA showing enlargemen o oveal avascular zone in diabe ic re inopa hy.
No e he hyper uorescen do in erior o he ovea (arrow) . B. Hyper uorescence and linear horizon al
hypo uorescence develop suddenly during he IVFA as spon aneous prere inal hemorrhage begins o occur
rom a iny area o NVE.
( continued)

124

3 DIABE IC RE INO PA H Y

D
FIGURE 3-27. ( Continued) C. T e area o hyper- and hypo uorescence enlarges as hemorrhage expands during
he IVFA. D. Red- ree pho ograph showing resh prere inal hemorrhage. Pho o was aken shor ly a er (C) .

Proli era ive Diabe ic Re inopa hy

125

FIGURE 3-28. Laser pho ocoagula ion scars spaced abou one burn wid h apar in panre inal pho ocoagula ion
(PRP) .

FIGURE 3-29. PRP scars in PDR. No e sparing o he macula.

126

3 DIABE IC RE INO PA H Y

FIGURE 3-30. Equa or-plus pho o a er ull PRP.

Proli era ive Diabe ic Re inopa hy

127

B
FIGURE 3-31. A. Pos erior pole a er PRP. T e pa ien had no appreciable macular hickening bu vision was
reduced o 20/ 80. B. IVFA showing enlarged, irregular oveal avascular zone (inse ) iden i ying ischemia as he
mechanism o vision loss.

128

3 DIABE IC RE INO PA H Y

B
FIGURE 3-32. A. rac ion re inal de achmen involving he macula. B. Pos opera ive appearance a er
vi rec omy, membrane peeling, and PRP.

Proli era ive Diabe ic Re inopa hy

129

B
FIGURE 3-33. A. Marked rac ion on he macula in a pa ien ound o have a ull- hickness re inal break as well
during vi rec omy. B. Pos opera ive appearance shows he re ina o be at ached, PRP and a residual vi reous
cavi y gas bubble ( arrow) slowly resolving.

130

3 DIABE IC RE INO PA H Y

FIGURE 3-34. Wide angle pho ograph showing combined rac ion and rhegma ogenous re inal disease in PDR.
No e he ull- hickness re inal hole nasally and adjacen whi e f brovascular rac ion.

Proli era ive Diabe ic Re inopa hy

131

B
FIGURE 3-35. A. Preopera ive appearance o highly eleva ed and vascularized NVD. B. wo days a er
in ravi real injec ion o bevacizumab he NVD looks whi e and issue manipula ion during vi rec omy is grea ly
acili a ed.

132

3 DIABE IC RE INO PA H Y

DIABE
D
I ABE
E IC
CP
PAPILLO
AP
P IL
L L O PA
PA H Y

iabe ic papillopa hy describes op ic disc


edema, ei her unila eral or bila eral, in a
diabe ic pa ien wi h evidence or minimal or
mild op ic nerve dys unc ion and no evidence
or ocular in amma ion or eleva ed in racranial pressure.

EPIDEMIOLOGY
AND ETIOLO GY
Roughly 70% o pa ien s have ype 1
diabe es, and 60% o cases are unila eral.
E iology is uncer ain, al hough some
sugges a mild nonar eri ic an erior ischemic
op ic neuropa hy (AION).

HISTORY
Pa ien s may have blurry vision or be
asymp oma ic.
Rarely here will be ransien visual
obscura ion.
Neurologic symp oms are absen .

IMPORTANT
CLINICAL SIGNS
Disc swelling occurs wi h prominen surace vessels and ne hemorrhages on he disc.
An af eren papillary de ec is presen bu
generally no severe.
Visual loss is o en mild wi h 20/ 40 or be er in 75% o cases.

ASSOCIATED
CLINICAL SIGNS
A crowded op ic disc is o en presen ,
similar o AION. T is does no correla e wi h
he degree o diabe ic re inopa hy.

DIFFERENTIAL DIAGNOSIS
Op ic disc neovasculariza ion rom PDR
AION
Op ic neuri is
Op ic disc drusen
Papilledema

DIAGNOSTIC EVALUATION
In general, no workup is needed in he
appropria e clinical set ing. I he case is
a ypical, hen imaging such as a magne ic
resonance scan is indica ed.
Visual eld examina ion may be use ul o
documen and ollow visual loss.
Fluorescein angiography can dis inguish
diabe ic papillopa hy rom NVD bu is
rarely needed. Diabe ic papillopa hy ypically s ains wi hou signi can leakage on
uorescein angiography whereas NVD
shows leakage o dye in o he vi reous
cavi y.

PROGNOSIS AND
MANAGEMENT
No rea men is indica ed. Subs an ial
spon aneous recovery occurs, usually over
weeks o mon hs, wi h many pa ien s showing sub le op ic a rophy or visual eld de ec s
permanen ly.
Pa ien s should be moni ored o rule ou
rapid progression o PDR, which occurs in a
minori y o cases.

C H AP T ER

e inal Vascular Disease


Gary C. Brown

CO
O

ON
N-WO
-W
-WO
WO O L SP
SPO
PO S

ot on-wool spo s describe he re inal


change resul ing rom acu e blockage o
blood ow wi hin a erminal re inal ar eriole.

EPIDEMIOLOGY
AND ETIOLO GY
T e prevalence is uncer ain. Cot on-wool
spo s are seen in over 40% o cases o diabe ic
re inopa hy and also wi h acu e sys emic
ar erial hyper ension.
No heredi ary pat ern is known.

PATHOPHYSIOLOGY
Embolic
Hyper ensive ar eriolar necrosis
In amma ory
See Diagnos ic Evalua ion below

CLINICAL SIGNS
Visual acui y: Cen ral visual acui y is usually unaf ec ed, al hough pa ien s may no e

he sudden appearance o corresponding


blind spo s.
Pupillary changes: An af eren pupillary
de ec is usually absen .
Fundus changes: Cot on-wool spo s
appear in he pos erior pole o he undus
(no he peripheral re ina) as super cial areas
o re inal opaci ca ion ha charac eris ically
measure less han one quar er disc area in size
(Fig. 4-1). When associa ed wi h diabe es
melli us, sys emic ar erial hyper ension, and
re inal venous obs ruc ion, hey are generally
seen concomi an ly wi h re inal hemorrhages.
Cot on-wool spo s usually resolve over 5 o
7 weeks bu may remain longer when presen
in conjunc ion wi h diabe ic re inopa hy.

DIFFERENTIAL DIAGNOSIS
In amma ory re ini is may occur
rom en i ies such as oxoplasmosis or
cy omegalovirus.
e inal hemorrhages are ypically presen
wi h he lat er.
T ere are also usually vi reous cells presen wi h in amma ory condi ions, bu no
wi h cot on-wool spo s alone.
133

134

4 RETINAL VASCULAR DISEASE

DIAGNOSTIC EVALUATION
In ravenous uorescein angiography is
minimally help ul. I reveals areas o relaive hypo uorescence corresponding o he
cot on-wool spo s.
Sys emic workup (similar o ha o acu e
cen ral re inal ar ery obs ruc ion, unless
he obvious causes o diabe ic re inopa hy,
sys emic ar erial hyper ension, and re inal
venous obs ruc ion are presen ):
Diabe ic re inopa hy: Cot on-wool
spo s are presen in 44% o cases.
Sys emic ar erial hyper ension: Dias olic
blood pressure o 105 o 110 mm Hg or
more is usually necessary o induce cot onwool spo orma ion in adul s.
e inal vein obs ruc ion: Cen ral, branch.
Embolic: Caro id and cardiac.
In amma ory: Gian cell ar eri is,
Wegeners granuloma osis, polyar eri is
nodosa, sys emic lupus ery hema osus,
scleroderma, orbi al mucormycosis, oxoplasmosis re ini is.
Coagulopa hies: Sickle cell disease,
homocys einuria, lupus an icoagulan
syndrome, pro ein S de ciency, pro ein C
de ciency, an i hrombin III de ciency, and
he ac or V Leiden mu a ion.

Miscellaneous: Migraine, Lyme disease,


hypo ension, acquired immunode ciency
syndrome (AIDS), in er eron herapy, me as a ic carcinoma, in ravenous drug abuse
(chronic), papilledema, acu e pancrea i is,
severe anemia, radia ion re inopa hy, lep ospirosis, Pur schers re inopa hy.

PROGNOSIS AND
MANAGEMENT
T e visual prognosis or cen ral vision is
good unless here are innumerable cot onwool spo s as wi h en i ies such as sys emic
lupus ery hema osus, pancrea i is, Pur schers
re inopa hy, or in ravenous drug abuse.
Associa ed damage rom en i ies ha cot onwool spo s accompany (e.g., diabe ic re inopa hy or re inal venous obs ruc ion) can lead
o severe visual loss.
T ere is no consis en ly proven rea men o ameliora e he visual acui y. When
known diabe ic re inopa hy and re inal vein
obs ruc ion are excluded as causes, a serious
associa ed sys emic disease can be ound in
95% o cases. T us, i is cri ical o under ake
a sys emic workup i here is no appreciable
underlying cause, even i only one cot onwool spo is presen .

Cot on-Wool Spo s

135

FIGURE 4-1. Cot on wool spo s. Mul iple cot on wool spo s inse in he undus o a pa ien wi h human
immunodef ciency virus HIV in ec ion.

136

4 RETINAL VASCULAR DISEASE

H YP
YPER
P E R EN
N SIVE
SIV
VE
RE
R
E IN
N O PA
A HY

yper ensive re inopa hy re ers o he


re inal vascular changes associa ed wi h
sys emic ar erial hyper ension. Hyper ensive
choroidopa hy may also accompany he acu e
phases o hyper ensive re inopa hy. Blood
pressure can vary hroughou he day, as
can coverage wi h hyper ensive medica ions.
T us, having a pa ien measure blood pressure a home hree imes a day or 3 o 4 days
gives he clinician and he pa ien grea er condence ha he blood pressure is ei her s able
or no .

EPIDEMIOLOGY
Hyper ensive re inopa hy can be divided
in o chronic and acu e phases. T e mos
commonly used classi ca ion is he Kei h
WagenerBarker classi ca ion. T e grades o
hyper ensive re inopa hy are as ollows:
Grade 1: e inal ar erial narrowing
(Fig. 4-2)
Grade 2: e inal ar eriovenous nicking
(Fig. 4-3)
Grade 3: e inal hemorrhages, cot onwool spo s, hard exuda es (Fig. 4-4)
Grade 4: Grade 3 changes plus op ic
disc swelling (Fig. 4-5)
Grades 1 and 2 are commonly seen in
prac ice. Grade 3 and 4 changes are much less
requen ly seen.

re inopa hy. Ar eriovenous nicking o a re inal


vein does no occur a an ar eriovenous crossing unless he re inal ar ery is loca ed an erior
o he re inal vein, a phenomenon which
occurs in approxima ely wo- hirds o he ar eriovenous crossings in he pos erior pole.
Grade 3: T e sys emic dias olic blood
pressure in an adul wi h grade 3 hyper ensive re inopa hy is ypically a leas 105 o
110 mm Hg. A his poin , he re inal ar eries
lose heir abili y o au oregula e he blood
ow, and he high pressure is passed dis ally
o he re inal ar erioles and capillary bed. T is
same clinical signs can be seen in children
when he sys olic blood is in he nine ies.
Grade 4: T e sys emic dias olic blood
pressure in an adul wi h grade 4 hyper ensive
re inopa hy is usually a leas 130 o 140 mm
Hg. Wi h bo h grades 3 and 4 hyper ensive
re inopa hy, he increased blood pressure can
damage he blood vessel wall, leading o brinoid necrosis ( he presence o brin hrombi
wi hin he vascular lumina). A similar process
occurs wi h hyper ensive choroidopa hy,
leading o necrosis o he overlying re inal
pigmen epi helium (Elschnig spo ).

CLINICAL SIGNS
Grade 1 and 2 changes are chronic,
whereas grade 3 and 4 changes indica e acu e
re inal vascular decompensa ion.
Hyper ensive choroidopa hy (Elschnig
spo s) may accompany grade 3 and 4 changes.
Elschnig spo s are round and yellow acu ely,
even ually changing o pigmen ed lesions.

PATHOPHYSIOLOGY

DIFFERENTIAL DIAGNOSIS

Grades 1 and 2: Hyaliniza ion and hickening o he re inal ar erial walls is seen, leading
o he s raigh ened vessels in grade 1 and he
inden a ion (ar eriovenous nicking) o he re inal veins by he ar eries in grade 2 hyper ensive

Diabe ic re inopa hy, radia ion re inopa hy,


venous occlusive disease, caro id ar ery occlusive disease (ocular ischemic syndrome), and
collagen vascular diseases can all mimic he
changes o hyper ensive re inopa hy.

Hyper ensive Re inopa hy

DIAGNOSTIC EVALUATION
Measuremen o he sys emic blood
pressure is cri ical when he diagnosis is suspec ed. I he acu e changes (grades 3 and
4) are classic and he blood pressure is no
eleva ed a he ime o measuremen , considera ion should be given o he possibili y ha
he blood pressure has been uncon rolled
recen ly or is uncon rolled a o her imes during he day.

PROGNOSIS AND
MANAGEMENT
Vision is ypically unaf ec ed wi h grades
1 and 2 hyper ensive re inopa hy and may be
mildly decreased wi h grade 3 re inopa hy.
Wi h grade 4 re inopa hy, vision can be
markedly decreased due o re inal edema,
hard exuda es in he cen ral macula (macular
s ar) and/ or he presence o a serous re inal
de achmen .
T e rea men or hyper ensive re inopahy is o correc he underlying condi ion by
normalizing he blood pressure. T is causes

137

resolu ion o he undus abnormali ies over a


period o weeks o mon hs in eyes wi h grade
3 and 4 changes, bu o en does no af ec he
changes seen wi h grades 1 and 2 hyper ensive re inopa hy.
Laser herapy has no been shown o be o
bene in rea ing he visual loss associa ed
wi h grade 3 and 4 hyper ensive re inopa hy.
Correc ing he blood pressure a er grade
4 re inopa hy can lead o visual improvemen ,
al hough here may be residual, permanen
visual loss due o vascular shu down in
hyper ensive choroidopa hy, hyper ensive
re inopa hy, hyper ensive op ic neuropa hy.
Oral ni edipine has been sugges ed or he
rea men o acu e grade 4 hyper ensive
re inopa hy.
T eore ically, in ravi real VEGF-A inhibior herapy wi h ranibizumab and/ or bevacizumab could s abilize he walls o re inal
o vessels wi h grade 3 or 4 sys emic ar erial
hyper ension changes. As o his wri ing, da a
on he rea men o hyper ensive re inopa hy
wi h hese in erven ions are lacking.
I he blood pressure associa ed wi h grade
4 hyper ensive re inopa hy is un rea ed, he
18-mon h mor ali y ra e is 94%.

138

4 RETINAL VASCULAR DISEASE

FIGURE 4-2. Hyper ensive re inopa hy, grade 1. T e re inal ar eries are markedly narrowed and s raigh ened.
Small re inal hemorrhages are presen , no due o hyper ension bu due o background diabe ic re inopa hy.

FIGURE 4-3. Hyper ensive re inopa hy, grade 2. Prominen ar eriovenous nicking arrows is seen. Small
re inal hemorrhages are presen , no due o hyper ension, bu due o diabe ic re inopa hy.

Hyper ensive Re inopa hy

139

FIGURE 4-4. Hyper ensive re inopa hy, grade 4. Cot on wool spo s, re inal hemorrhages, a macular s ar
composed o in rare inal lipid exuda es, and a serous de achmen o he macula are all presen . T e op ic nerve
head is swollen, he ea ure ha separa es grade 3 and grade 4 hyper ensive re inopa hy.

140

4 RETINAL VASCULAR DISEASE

B
FIGURE 4-5. Hyper ensive re inopa hy, grade 4. A. Re inal hemorrhages are presen , he op ic disc is
swollen, and an exuda ive re inal de achmen arrows is presen in eriorly. Yellow Elschnig spo s as erisk are
presen in he macula. B. Fluorescein angiogram corresponding o A. Pro ound re inal capillary nonper usion
is presen in he macula macular ischemia , and oci o hyper uorescence corresponding o he Elschnig spo s
as erisk are also seen in he macula.
(continued)

Hyper ensive Re inopa hy

141

C
FIGURE 4-5. Continued Hyper ensive re inopa hy, grade 4. C. Fluorescein angiogram o he superior
undus o he eye shown in A. Numerous oci o hyper uorescence corresponding o Elschnig spo s as erisk
can be seen.

142

4 RETINAL VASCULAR DISEASE

CILIO
C
ILII O RE
R E INAL
IN
N AL AR
AR ERY
E RY
O BS
S RU
RUC
U C IIO
ON
( O CCLUSIO
C C LU
U SIO N)

iliore inal ar ery obs ruc ion is he acu e


blockage o blood ow wi hin a ciliore inal ar ery.

EPIDEMIOLOGY
AND ETIOLO GY
Ciliore inal ar ery obs ruc ion ypically
occurs in pa ien s aged 65 years and older bu
can be seen a any age.
I is seen in approxima ely 1:100,000 ou pa ien oph halmology visi s.
T e abnormali y is unila eral in over 99%
o cases. No heredi ary pat ern is known.

PATHOPHYSIOLOGY
Embolic
Hyper ensive ar erial necrosis
In amma ory (e.g., gian cell ar eri is)
Hemorrhage under an a herosclero ic
plaque
Associa ed wi h cen ral re inal vein
obs ruc ion

CLINICAL SIGNS
Visual acui y: Generally, here is a hisory o acu e, unila eral, painless visual
eld loss occurring over several seconds.
Approxima ely 10% o hose af ec ed have
a his ory o ransien visual loss (amaurosis
ugax) in he af ec ed eye prior o he cen ral
re inal ar erial obs ruc ion.
Pupillary changes: An af eren pupillary
de ec may presen immedia ely, depending
on he area o dis ribu ion o he obs ruc ion.

Fundus changes: T ree varian s occur:


Ciliore inal ar ery obs ruc ion alone
(Fig. 4-6): Super cial re inal whi ening,
usually loca ed wi hin he papillomacular bundle, bu which may ake hours o
develop
Ciliore inal ar ery obs ruc ion associa ed wi h cen ral re inal vein obs ruc ion
Ciliore inal ar ery obs ruc ion associa ed wi h acu e an erior ischemic op ic
neuropa hy (Fig. 4-7): Mus be par icularly
concerned abou underlying gian cell
ar eri is
e inal in ra-ar erial emboli: Prevalence is
uncer ain.
Choles erol (Hollenhors plaque named
a er ober Hollenhors a he Mayo
Clinic): Glis ening yellow and ypically
arises rom he caro id ar eries. T e mos
likely scenario ollows:
1. A herosclerosis causes urbulen ow.
2. urbulence causes damage o he
caro id endo helium.
3. Plaque is dislodged rom he underlying, exposed caro id a herosclerosis.
T e plaque ravels o lodge in he
cen ral re inal ar ery or branch re inal
ar ery.
4. A brinpla ele hrombus may or
may no be he nidus or he developmen o a pla ele hrombin. T us,
a larger embolus may cause a more
severe occlusion.
5. Even ually, he endo helium repairs
he damage and he plaque is no
exposed o blood.
6. urbulence
Calci c: Large, whi e plaque generally
origina ing rom he cardiac valves
Fibrinpla ele : Longer and dull whi e;
may origina e rom he caro ids or cardiac
valves

Ciliore inal Ar ery Obs ruc ion (Occlusion)

DIFFERENTIAL DIAGNOSIS
In amma ory re ini is rom en i ies such
as oxoplasmosis or cy omegalovirus. e inal
hemorrhages are ypically presen wi h he
lat er.
T ere are also usually vi reous cells presen wi h in amma ory condi ions bu no
wi h acu e ciliore inal ar ery obs ruc ion.

DIAGNOSTIC EVALUATION
In ravenous uorescein angiography:
Ciliore inal ar eries normally ll wi h uorescein dye during he early choroidal lling
phase o a uorescein angiogram. A ciliore inal ar ery obs ruc ion ypically shows nonper usion o dye in he af ec ed vessel hrough
he re inal ar eriovenous phase.
Sys emic workup: T is is similar o ha o
acu e cen ral re inal ar ery obs ruc ion.
Emboli: Caro id and cardiac
In amma ory: Gian cell ar eri is,
Wegeners granuloma osis, polyar eri is
nodosa, sys emic lupus ery hema osus,
orbi al mucormycosis, oxoplasmosis
re ini is
Coagulopa hies: Sickle cell disease,
homocys inuria, lupus an icoagulan

143

syndrome, pro ein S de ciency, pro ein C


de ciency, an i hrombin III de ciency
Miscellaneous: Fibromuscular hyperplasia, Sydenhams chorea, Fabrys disease,
migraine, Lyme disease, hypo ension

PROGNOSIS AND
MANAGEMENT
Wi h isola ed ciliore inal ar ery obs rucion, 90% o eyes re urn o 20/ 40 vision or
bet er. Wi h cen ral re inal vein occlusion,
70% o eyes re urn o 20/ 40 vision or bet er.
Wi h an erior ischemic op ic neuropa hy,
vision o en remains coun ing ngers o hand
mo ions.
T ere is no consis en ly proven rea men
o ameliora e he visual acui y. Because o he
rela ively good prognosis or cen ral vision,
digi al massage and an erior chamber paracen esis are no ypically under aken.
Despi e he lack o an ef ec ive ocular
rea men , a sys emic workup should be
under aken. Al hough gian cell ar eri is
likely only accoun s or 1% o 2% o cases,
he possibili y should be ac ively inves iga ed
because he ellow eye can be involved by
re inal ar erial obs ruc ion wi hin hours o
days.

144

4 RETINAL VASCULAR DISEASE

FIGURE 4-6. Ciliore inal ar er y obs ruc ion. Isola ed ciliore inal ar ery obs ruc ion. No e he re inal
whi ening indica ing ischemic re inal edema inse .

FIGURE 4-7. Ciliore inal ar er y obs ruc ion and ischemic op ic neuropa hy. Ciliore inal ar ery occlusion
associa ed wi h an erior ischemic op ic neuropa hy. No e he associa ed disc edema and pallor.

Branch Re inal Ar eryObs ruc ion (Occlusion)

BRAN
B
RA
AN CH
H RE
E IN
N AL
AL
AR
A
R ERY
E RY
Y O BS
S RUC
RU
U C IIO
ON
( O CCLUSIO
C C LU
U SIO N)
N)

ranch re inal ar ery obs ruc ion is he


acu e blockage o blood ow wi hin a
branch re inal ar ery.

EPIDEMIOLOGY
AND ETIOLO GY
Branch re inal ar ery obs ruc ion ypically
occurs in pa ien s aged 65 years and older bu
can be seen a any age.
I is seen in approxima ely 1:15,000 o
20,000 ou pa ien oph halmology visi s.
T e abnormali y is unila eral in 99% o
cases. No heredi ary pat ern is known.

PATHOPHYSIOLOGY
Embolic
Hyper ensive ar erial necrosis
In amma ory (e.g., gian cell ar eri is)
Hemorrhage under an a herosclero ic plaque

CLINICAL SIGNS
Visual acui y: Generally, here is a hisory o acu e, unila eral, painless visual
eld loss occurring over several seconds.
Approxima ely 10% o hose af ec ed have
a his ory o ransien visual loss (amaurosis
ugax) in he af ec ed eye.
Pupillary changes: An af eren pupillary
de ec may presen immedia ely, depending
on he area o dis ribu ion o he obs ruc ion.
Fundus changes: Super cial re inal whi ening (Fig. 4-8A) can ake hours o develop.
e inal in ra-ar erial emboli (prevalence
uncer ain):

145

Choles erol (Hollenhors plaque):


Glis ening yellow and ypically rom he
caro id ar eries
Calci c: Large, whi e plaque generally
origina ing rom he cardiac valves (Fig. 4-9)
Fibrinpla ele : Longer and dull whi e;
may origina e rom he caro ids or cardiac
valves (see Fig. 4-8A)

DIFFERENTIAL DIAGNOSIS
In amma ory re ini is may occur rom
en i ies such as oxoplasmosis or cy omegalovirus. e inal hemorrhages are ypically presen wi h he lat er.
T ere are also usually vi reous cells presen wi h in amma ory condi ions bu no
wi h acu e branch re inal ar ery obs ruc ion.

DIAGNOSTIC EVALUATION
In ravenous uorescein angiography:
eveals a delay in re inal ar erial and venous
lling in he area o obs ruc ion versus he
normal remaining undus (see Fig. 4-8A).
T ere may be s aining o he ischemic re inal
vascula ure (see Fig. 4-8C).
Sys emic workup: T is is similar o ha o
acu e cen ral re inal ar ery obs ruc ion.
Embolic: Caro id and cardiac
In amma ory: Gian cell ar eri is,
Wegeners granuloma osis, polyar eri is
nodosa, sys emic lupus ery hema osus,
orbi al mucormycosis, oxoplasmosis
re ini is
Coagulopa hies: Sickle cell disease,
homocys einuria, lupus an icoagulan
syndrome, pro ein S de ciency, pro ein C
de ciency, an i hrombin III de ciency
Miscellaneous: Fibromuscular hyperplasia, Sydenhams chorea, Fabrys disease,
migraine, Lyme disease, hypo ension

146

4 RETINAL VASCULAR DISEASE

PROGNOSIS AND
MANAGEMENT
Mos pa ien s improve o 20/ 40 or bet er
vision wi hou rea men , al hough a eld
de ec corresponding o he area o obs rucion usually persis s.
T ere is no consis en ly proven rea men
o ameliora e he visual acui y. Because o he
rela ively good prognosis or cen ral vision,

digi al massage and an erior chamber paracen esis are no ypically under aken.
Despi e he lack o an ef ec ive ocular
rea men , a sys emic workup should be
under aken. Al hough gian cell ar eri is
likely only accoun s or 1% o 2% o cases,
he possibili y should be ac ively inves iga ed
because he ellow eye can be involved wi hin
hours o days.

A
FIGURE 4-8. Branch re inal ar er y obs ruc ion. A. Re inal whi ening inse due o branch re inal ar ery
obs ruc ion. No e he proximal in ra ar erial pla ele f brin hrombus arrow .
continued

Branch Re inal Ar ery Obs ruc ion (Occlusion)

147

C
FIGURE 4-8. (Continued) Branch re inal ar er y obs ruc ion. B. Fluorescein angiogram corresponding o
A reveals re inal ar eriolar and capillary nonper usion in he dis ribu ion o he occluded vessel. C. S aining o
he in ero emporal branch re inal ar ery is presen in he area o occlusion.

148

4 RETINAL VASCULAR DISEASE

FIGURE 4-9. Branch re inal ar er y obs ruc ion, calcif c plaque. In ra ar erial calcif c plaque arrow
associa ed wi h branch re inal ar ery occlusion.

Cen ral Re inal Ar ery Obs ruc ion (Occlusion)

CEN
C
EN
N RAL
RA
AL RE INAL
IN
N AL
AR
A
R ERY
E RY
Y O BS
S RUC
RU
U C IIO
ON
( O CCLUSIO
C C LU
U SIO N)
N)

en ral re inal ar ery obs ruc ion is he


acu e blockage o blood ow wi hin he
cen ral re inal ar ery.

EPIDEMIOLOGY
AND ETIOLO GY
Cen ral re inal ar ery obs ruc ion ypically
occurs in pa ien s aged 65 years and older bu
can be seen a any age.
I is seen in approxima ely 1:10,000 ou paien oph halmology visi s.
T e abnormali y is unila eral in 99% o
cases.
No heredi ary pat ern is known.

PATHOPHYSIOLOGY
Embolic
Hyper ensive ar erial necrosis
Dissec ing aneurysm wi hin he cen ral
re inal ar ery
In amma ory (e.g., gian cell ar eri is)
Hemorrhage under an a herosclero ic
plaque
Vasospasm

CLINICAL SIGNS
Visual acui y: Generally, here is a his ory o
acu e, unila eral, painless visual loss occurring
over several seconds. Approxima ely 10% o
hose af ec ed have a his ory o ransien visual
loss (amaurosis ugax) in he af ec ed eye.
Pupillary changes: An af eren pupillary
de ec is usually presen immedia ely.

149

Fundus changes
Super cial re inal whi ening: Can ake
hours o develop
Cherry red spo in he oveola (Fig. 4-10)
Ciliore inal ar erial sparing o cen ral
ovea (Fig. 4-11): Presen in 10% o cases
e inal in ra-ar erial emboli: Presen in
20% o cases
Choles erol (Hollenhors plaque):
Glis ening yellow (Fig. 4-12) and ypically
origina es rom he caro id ar eries
Calci c: Large, whi e plaque generally
origina ing rom he cardiac valves
Fibrinpla ele : Longer and dull whi e;
may origina e rom he caro ids or cardiac
valves (see Fig. 4-8A)

DIFFERENTIAL DIAGNOSIS
Acu e oph halmic ar ery obs ruc ion
(cherry red spo absen )
aySachs disease (cherry red spo presen , bu in in an s less han 1 year o age and
wi h severe neurologic dys unc ion)

DIAGNOSTIC EVALUATION
In ravenous uorescein angiography:
eveals delay in re inal ar erial and venous
lling (normally, he vein o he emporal
vascular arcade should comple ely ll wi hin
11 seconds a er dye en ers he corresponding
re inal ar eries.
Elec rore inography: Normal a-wave
ampli ude, bu diminished b-wave ampli ude.
Sys emic workup
Embolic: Caro id and cardiac
In amma ory: Gian cell ar eri is,
Wegeners granuloma osis, polyar eri is
nodosa, sys emic lupus ery hema osus,
orbi al mucormycosis

150

4 RETINAL VASCULAR DISEASE

Coagulopa hies: Sickle cell disease,


homocys einuria, lupus an icoagulan
syndrome, pro ein S de ciency, pro ein C
de ciency, an i hrombin III de ciency
Miscellaneous: Fibromuscular hyperplasia, Sydenhams chorea, Fabrys disease,
migraine, Lyme disease, hypo ension
Vasospas ic: Migraine

PROGNOSIS AND
MANAGEMENT
T e visual prognosis is ypically poor,
wi h mos pa ien s re aining coun ing nger
o hand mo ions vision and a small emporal
island o vision remaining. I a ciliore inal
ar ery spares he cen ral ovea, 80% o eyes
will re urn o 20/ 20 o 20/ 50 vision over a
period o 2 weeks. Never heless, in he lat er
ins ance here is ypically severe visual eld
loss. Approxima ely 18% o eyes will progress
o develop iris neovasculariza ion wi hin 4 o
6 weeks a er he acu e obs ruc ion.
T ere is no consis en ly proven rea men o ameliora e he visual acui y. Digi al

massage o he globe and an erior chamber


paracen esis has been advoca ed bu has
minimal bene . rea men wi h brinoly ic
agen s is s ill considered inves iga ional.
Despi e he lack o a consis en ly ef ec ive
ocular rea men , a sys emic workup should
be under aken. Al hough gian cell ar eri is
likely only accoun s or 1% o 2% o cases,
he possibili y should be ac ively inves iga ed
because he ellow eye can be involved wi hin
hours o days. In regard o sys emic workup, i
should be no ed ha pa ien s wi h acu e cenral ar ery obs ruc ion have a high dea h ra e
rom cardiac vascular disease.
I iris neovasculariza ion develops, laser
panre inal pho ocoagula ion (P P) should
be considered o help preven neovascular
glaucoma. I causes resolu ion o he new iris
vessels in approxima ely wo- hirds o he
rea ed cases.
Embolec omy has been per ormed wi h
he yt rium-aluminium-garne (YAG) by
crea ing a hole in he ar ery over he laser,
hough he incidence o vi reous hemorrhage
is high and he resul s variable.

Cen ral Re inal Ar ery Obs ruc ion (Occlusion)

151

FIGURE 4-10. Acu e cen ral re inal ar er y occlusion. Superf cial re inal opacif ca ion is presen , and a cherry
red spo can be seen in he oveola. No e he segmen ed columns o blood in re inal ar erioles boxcarring .

FIGURE 4-11. Cen ral re inal ar er y occlusion wi h ciliore inal ar er y sparing. Acu e cen ral re inal ar ery
occlusion inse wi h ciliore inal ar erial sparing o he oveola. Compare wi h Figure 4-6.

152

4 RETINAL VASCULAR DISEASE

FIGURE 4-12. Hollenhors plaque. Glis ening choles erol embolus Hollenhors plaque wi hin a re inal
ar eriole arrow . T ese emboli ypically lodge a re inal ar eriolar bi urca ions.

Acu e Oph halmic Ar ery Obs ruc ion (Occlusion)

ACU
A
CU
U E O PH
H HA
ALMIC
LM
MI C
AR
A
R ERY
E RY
Y O BS
S RUC
RU
U C IIO
ON
( O CCLUSIO
C C LU
U SIO N)
N)

cu e oph halmic ar ery obs ruc ion is he


acu e blockage o he oph halmic ar ery.

EPIDEMIOLOGY
AND ETIOLO GY
Acu e oph halmic ar ery obs ruc ion
occurs in approxima ely 1:100,000 oph halmologic visi s.
T e mean age o onse is in he six ies.
No heredi ary pat ern is known.

PATHOPHYSIOLOGY
Embolic
rauma
In ec ious (e.g., mucormycosis o he
orbi )
In amma ory (e.g., collagen vascular
disease, gian cell ar eri is)
O her (see causes o acu e cen ral re inal
ar ery obs ruc ion)

153

occurring over a period ranging rom seconds.


T e visual acui y is no ligh percep ion in 90%
o cases.
Pupillary changes: An af eren pupillary
de ec is presen .
Fundus changes: Super cial re inal whi ening in he pos erior pole occurs, o en more
pronounced han wi h acu e cen ral re inal
ar ery obs ruc ion because he re inal pigmen epi helium may be opaci ed as well
wi h acu e oph halmic ar ery obs ruc ion
(Fig. 4-13A). T e presence o a cherry red
spo in he oveola is variable; one- hird o
he pa ien s have none, one- hird have a mild
cherry red spo , and one- hird have a prominen cherry red spo .
T e presence o re inal ar erial emboli is
variable. Sal and pepper re inal pigmen
epi helial changes occur in he pos erior pole
and elsewhere wi hin weeks a er he acu e
obs ruc ion. T e pigmen epi helial changes
do no occur secondary o cen ral re inal
ar ery obs ruc ion alone.

DIFFERENTIAL DIAGNOSIS
e er o Table 4-1.

DIAGNOSTIC EVALUATION

CLINICAL FEATURES
Visual acui y: Generally, here is a hisory o acu e, unila eral, painless visual loss

In ravenous uorescein angiography


Delay in choroidal lling: T e choroid
should be comple ely lled wi hin

TABLE 4-1. Di eren ial Diagnosis o Acu e Oph halmic Ar ery Obs ruc ion
Central Retinal Artery Obstruction

Ophthalmic Artery Obstruction

Vision

Finger coun inghand mo ions

No ligh percep ion

Fundus

Re inal opacifca ion wi h cherry


red spo

Marked opacifca ion cherry


red spo

Fluorescein angiography

Delayed re inal vascular f lling

Delayed choroidal and re inal


vascular f lling

Elec rore inography

Decreased b-wave

Decreased a- and b-waves

154

4 RETINAL VASCULAR DISEASE

5 seconds a er he rs appearance o uorescein dye wi hin i (Fig. 4-13B).


Delayed re inal ar erial and venous
lling.
La e ocal or dif use s aining o he re inal pigmen epi helium due o choroidal
ischemia.
Elec rore inography: Decreased or
absen a-wave (ou er layer re inal ischemia)
and b-wave (inner layer re inal ischemia)
ampli udes.
Sys emic workup: T is is similar o ha o
acu e cen ral re inal ar ery obs ruc ion.
Embolic: Caro id and cardiac
In amma ory: Gian cell ar eri is,
Wegeners granuloma osis, polyar eri is
nodosa, sys emic lupus ery hema osus,
orbi al mucormycosis, oxoplasmosis
re ini is.
Coagulopa hies: Sickle cell disease,
homocys einuria, lupus an icoagulan
syndrome, pro ein S de ciency, pro ein
C de ciency, an i hrombin III de ciency

Miscellaneous: Fibromuscular
hyperplasia, Sydenhams chorea,
Fabrys disease, migraine, Lyme disease,
hypo ension
T e mos common e iology is as an ia rogenic sequela o re robulbar injec ion.

PROGNOSIS AND
MANAGEMENT
Al hough spon aneous reversal can rarely
occur, he long- erm vision in mos cases is
usually ligh percep ion o no ligh percepion. T ere is no proven rea men o ameliora e he visual acui y. Despi e he lack o an
ef ec ive ocular rea men , a sys emic workup
should be under aken.
T e pa ien should be observed regularly or he rs several mon hs or he
developmen o iris neovasculariza ion.
Laser P P should be considered i iris neovasculariza ion develops ( he incidence o
developmen o iris neovasculariza ion is
unknown).

Acu e Oph halmic Ar ery Obs ruc ion (Occlusion)

155

B
FIGURE 4-13. Acu e oph halmic ar er y obs ruc ion. A. Marked re inal whi ening is presen , and a cherry red
spo is absen . T e visual acui y was no ligh percep ion. B. Fluorescein angiogram corresponding o A. A 116
seconds a er injec ion, here is no dye wi hin he re inal vessels and he majori y o he choroid. Peripapillary
s aining is presen , presumably due o colla erals be ween episcleral vessels and he choroidal circula ion.

156

4 RETINAL VASCULAR DISEASE

CO MBIN
M BII N ED
DC
CEN
E N RAL
R AL
L
RE INAL
I NA
AL AR
AR ERY
E RY
Y AN
AN D
VEIN
VEI
I N O BS R
RUC
UC
C IO
ON
( O CCLUSIO
C C LU SIO
O N)
N)

e inal hemorrhages
Macular edema

DIFFERENTIAL DIAGNOSIS

In amma ory re ini is rom


cy omegalovirus
Cen ral re inal vein obs ruc ion (no cherry
red spo is presen )

EPIDEMIOLOGY
AND ETIOLO GY

DIAGNOSTIC EVALUATION

ombined cen ral re inal ar ery and vein


obs ruc ion is he acu e blockage o bo h
he cen ral re inal ar ery and he cen ral re inal
vein.

T e prevalence is uncer ain.


No heredi ary pat ern is known.

PATHOPHYSIOLOGY
T e disease process is uncer ain; blockage
o bo h he cen ral re inal ar ery and he cenral re inal vein has been shown in one case.

CLINICAL SIGNS
Visual acui y: Generally, here is a his ory
o acu e or subacu e, unila eral, painless visual
eld loss occurring over a period ranging
rom seconds o days.
Pupillary changes: An af eren pupillary
de ec is ypically presen .
Fundus changes (Fig. 4-14)
Super cial re inal whi ening in he poserior pole
Cherry red spo in he oveola
Dila ed, or uous re inal veins

In ravenous luorescein angiography:


eveals a delay in re inal ar erial and
venous illing in he area o obs ruc ion
versus he normal remaining undus. Severe
re inal capillary nonper usion is o en
presen .
Sys emic workup: T is is similar o ha o
acu e cen ral re inal ar ery obs ruc ion.
Embolic: Caro id and cardiac
In amma ory: Gian cell ar eri is,
Wegeners granuloma osis, polyar eri is
nodosa, sys emic lupus ery hema osus,
orbi al mucormycosis, oxoplasmosis
re ini is
Coagulopa hies: Sickle cell disease,
homocys einuria, lupus an icoagulan
syndrome, pro ein S de ciency, pro ein C
de ciency, an i hrombin III de ciency
Miscellaneous: Fibromuscular hyperplasia, Sydenhams chorea, Fabrys disease,
migraine, Lyme disease, hypo ension
T e mos common e iology is as a sequela
o re robulbar injec ion.

Combined Cen ral Re inal Ar ery and Vein Obs ruc ion (Occlusion)

PROGNOSIS AND
MANAGEMENT
Al hough here are excep ions, he vision
mos o en remains in he coun ing ngers o
ligh percep ion range. Approxima ely 80% o
eyes will progress o iris neovasculariza ion a
a mean ime o approxima ely 6 weeks a er
he obs ruc ion.
T ere is no proven rea men o ameliora e he visual acui y. Despi e he lack

157

o an ef ec ive ocular rea men , a sys emic


workup should be under aken. T e pa ien
should be ollowed regularly or he rs
several mon hs or he developmen o iris
neovasculariza ion.
Laser P P should be considered i iris
neovasculariza ion develops.
I he visual acui y is coun ing ngers or
worse, P P can be considered prior o he
developmen o iris neovasculariza ion.

FIGURE 4-14. Combined cen ral re inal ar er y and cen ral re inal vein occlusion. T e re inal veins are
dila ed and or uous, re inal hemorrhages are presen , and a cherry red spo due o superf cial re inal opacif ca ion
can be seen.

158

4 RETINAL VASCULAR DISEASE

OC
CULAR
U L AR ISCH
IS
SC H E
EMIC
M IC
C
SYN
SY
YN DRO
D R O ME
ME

cular ischemic syndrome describes ocular symp oms and signs at ribu able o
marked caro id or oph halmic ar ery obs rucion. Al erna ive nomencla ures include venous
s asis re inopa hy, ischemic ocular in ammaion, and ischemic oculopa hy.

EPIDEMIOLOGY
AND ETIOLO GY
Approxima ely 2000 cases occur in he
Uni ed S a es per year.
T e en i y is unila eral in 80% o cases and
bila eral in 20%.
I occurs in approxima ely 5% o pa ien s
wi h caro id ar ery obs ruc ion and is no usually seen in hose under he age o 50 years.
T e mean age is 65 years.
No heredi ary pat ern is known.

PATHOPHYSIOLOGY
Disease involves blockage o he caro id
or oph halmic ar ery, or bo h. No ow dis urbance occurs un il here is 70% obs ruc ion.
Wi h 90% obs ruc ion, per usion pressure in
he cen ral re inal ar ery decreases by 50%.
Hal o he cases have a 100% ipsila eral common or in ernal caro id ar ery obs ruc ion.
Causes include:
A herosclerosis (over 90% o cases)
Gian cell ar eri is

CLINICAL FEATURES
Symp oms and signs
Vision: Decreases over a period o weeks
o mon hs, al hough in 12% here is acu e
visual loss associa ed wi h a cherry red spo .

Periorbi al pain: Ocular angina is presen in abou 40% o cases and is described
as a dull ache.
Prolonged visual recovery ime a er
exposure o brigh ligh .
Pupillary changes: An af eren pupillary
de ec is ypically presen .
An erior segmen
Iris neovasculariza ion (67%)
An erior chamber cells (20%)
Pos erior segmen
Narrowed re inal ar eries in mos cases
Dila ed, bu no or uous, re inal veins
(Fig. 4-15A) in mos cases
Microaneurysms (see Fig. 4-15C) in
mos cases (pos erior pole or peripheral,
or bo h)
e inal do and blo hemorrhages (80%
o eyes)
Neovasculariza ion o he op ic disc
and/ or re ina (35%)
Super cial re inal whi ening in he poserior pole (12%)
Macular edema (see Fig. 4-15B) (11%)
Spon aneous re inal ar erial pulsa ions
(4%)
Associa ed sys emic abnormali ies
Sys emic ar erial hyper ension (65%)
Cardiac disease (50%)
Diabe es melli us (50%)
Previous s roke (20%)
Severe peripheral vascular disease (20%)

DIFFERENTIAL DIAGNOSIS
Cen ral re inal vein obs ruc ion ypically
has or uous re inal veins, as well as more
re inal hemorrhages and macular edema han
he ocular ischemic syndrome. Ligh digi al
pressure on he lid, or minimal pressure wi h

Ocular Ischemic Syndrome

oph halmodynamome ry, will induce re inal


ar erial pulsa ions wi h he ocular ischemic
syndrome, whereas subs an ial pressure is
required wi h cen ral re inal vein occlusion.
Also consider:
Diabe ic re inopa hy
adia ion re inopa hy

DIAGNOSTIC EVALUATION
In ravenous uorescein angiography:
Delay in choroidal lling (Fig. 4-16) occurs
in 60% o cases. Delayed re inal ar erial and
venous lling (see Fig. 4-16) occurs in 95%
o cases. La e re inal vascular s aining, more
pronounced o he re inal ar eries (Fig. 4-17),
occurs in 85% o cases.
Elec rore inography: Decreased or absen
a-wave (ou er layer re inal ischemia) and
b-wave (inner layer re inal ischemia) ampliudes are seen.
Sys emic workup: Caro id noninvasive
s udies have approxima ely 90% chance o
de ec ing caro id s enosis o 50% or more.
Caro id ar eriography or magne ic resonance
angiography (MR ) is per ormed i caro id
noninvasive s udies are ambiguous or i
caro id ar ery surgery is being considered.

PROGNOSIS
Ocular: Seven y- ve percen o eyes will
progress o coun ing ngers o worse vision
wi hin 1 year a er diagnosis.

159

Sys emic: T ere is a 40% 5-year mor ali y,


wi h cardiac disease as he mos common
cause o dea h.

MANAGEMENT
Laser P P is per ormed i here is iris
neovasculariza ion and he an erior chamber angle is open. P P induces regression
o iris new vessels in 36% o cases. T e
pa ien should be evalua ed or possible
caro id endar erec omy. In surgical candida es, 33% demons ra e improved vision,
33% demons ra e s abilized vision, and
33% progress o lose vision despi e endarerec omy surgery.
I he caro id ar ery is 100% obs ruc ed,
endar erec omy is no o bene ; nei her
is ex racranial o in racranial (e.g., super cial emporal o middle cerebral) bypass.
emember no o ignore he cardiac s a us,
because cardiac disease is he leading cause
o dea h.
Endar erec omy is indica ed or sympoma ic pa ien s ( hose wi h amaurosis
ugax, ransien ischemic at ack, or nondisabling s roke), and hose wi h 70% o 99%
ipsila eral caro id s enosis (Table 4-2).
An ipla ele herapy is indica ed or hose
who are symp oma ic and have less han
70% s enosis.
Caro id s en ing can also be considered
in selec cases.

TABLE 4-2. Ou comes A er rea men o Symp oma ic Pa ien s wi h High grade
Caro id Ar ery S enosis
Endarterectomy

Antiplatelet Agent

Periopera ive mor ali y

2%

1%

Severe s roke by 2 years

9%

26%

Da a rom he Nor h American Symp oma ic Caro id Endar erec omy Trial (NASCET).

160

4 RETINAL VASCULAR DISEASE

B
FIGURE 4-15. Ocular ischemic syndrome. A. T e re inal veins are sligh ly dila ed, bu no or uous, and
he re inal ar eries are narrowed. A ew re inal hemorrhages are no ed in he macula. B. Fluorescein angiogram
corresponding o A. Hyper uorescence o he op ic disc and macular edema are prominen .
continued

Ocular Ischemic Syndrome

161

C
FIGURE 4-15. (Continued) Ocular ischemic syndrome. C. Fluorescein angiogram in an eye wi h ocular
ischemic syndrome demons ra ing pinpoin oci o hyper uorescence due o microaneurysms in he
midperipheral undus.

FIGURE 4-16. Ocular ischemic syndrome. Fluorescein angiogram revealing delayed re inal ar erial and
choroidal vascular f lling in an ocular ischemic syndrome eye. No e he abnormal leading edge o uorescein dye
in he re inal ar eriole arrow .

162

4 RETINAL VASCULAR DISEASE

FIGURE 4-17. Ocular ischemic syndrome. La e phase uorescein angiogram demons ra ing re inal vascular
s aining in an ocular ischemic syndrome eye.

Branch Re inalVein Obs ruc ion (Occlusion)

BR
BRAN
R AN CH
C H RE
R E IN
I N AL
L
VEIN
N OB
BS
S R
RUC
U C IO N
( O CCLUSIO
C CL
LU SII O N))

ranch re inal vein obs ruc ion is he acu e


blockage o blood ow wi hin a branch
re inal vein.

EPIDEMIOLOGY
AND ETIOLO GY
Branch re inal vein obs ruc ion ypically
occurs in pa ien s aged 65 years and older bu
can be seen a any age. T e Beaver Dam Eye
S udy no ed a prevalence o 0.6% and a 5-year
incidence o 0.6% as well. No heredi ary pa ern is known.

163

5% o 10% o hemispheric re inal vein occlusions and 1% o 2% o branch re inal vein


obs ruc ions.
Pos erior segmen changes: e inal venous
engorgemen and or uosi y, as well as re inal
hemorrhages and edema, are ypically presen
wi hin he dis ribu ion o he occluded vessel
(Fig. 4-18A). Macular branch ( wig) vein
occlusions may be clinically sub le wi h minimal hemorrhage, elangiec asia, or macular
edema.
Neovasculariza ion o he op ic disc or
re ina, or bo h, can develop mon hs o years
a er he occlusion. Vi reous rac ion on re inal or op ic disc neovasculariza ion may lead
o vi reous hemorrhage wi h or wi hou racion re inal de achmen .

PATHOPHYSIOLOGY

DIFFERENTIAL DIAGNOSIS

Branch re inal vein occlusion ypically


occurs a a re inal ar eriovenous crossing.
Impingemen o he branch re inal ar ery on
he branch re inal vein is believed o cause
urbulen ow, leading o endo helial cell
damage and predisposing o hrombus ormaion wi hin he branch re inal vein.
When he branch re inal vein occlusion
does no occur a an ar eriovenous crossing,
an in amma ory cause, such as rom sarcoidosis, should be considered.

e inal cavernous hemangioma can occasionally mimic he appearance o a branch


re inal vein occlusion.

CLINICAL SIGNS
Visual acui y: Generally, here is a his ory
o unila eral, painless visual loss occurring
over a period o days.
Pupillary changes: An af eren pupillary
de ec may be presen , depending on he size
o he venous occlusion and he degree o
re inal ischemia.
An erior segmen changes: Iris neovasculariza ion has been observed o develop in

DIAGNOSTIC EVALUATION
In ravenous uorescein angiography:
eveals a delay in re inal ar erial and venous
lling in he dis ribu ion o he obs ruc ed
vessel. e inal capillary nonper usion may be
presen (Fig. 4-18B).
Sys emic workup: Includes an evalua ion or
sys emic ar erial hyper ension and increased
body mass. A his ory o glaucoma has also been
associa ed wi h branch re inal vein occlusion.

PROGNOSIS AND
MANAGEMENT
Laser Photocoagulation for Macular Edema
T e mean resul an visual acui y in eyes
wi h un rea ed branch re inal vein occlusion

164

4 RETINAL VASCULAR DISEASE

in he Branch Vein Occlusion S udy is 20/ 70.


In eyes ha are candida es or grid laser phoocoagula ion or macular edema, he mean
visual resul is 20/ 40 o 20/ 50.
According o he Branch Vein Occlusion
S udy, laser grid pho ocoagula ion or visual
loss due o macular edema can be considered
or eyes wi h branch re inal occlusion ha
mee he ollowing cri eria:
Visual acui y o 20/ 40 o 20/ 200
In ac peri oveal capillaries wi h uorescein angiography
esolu ion o he majori y o in rare inal blood
Ranibizumab T erapy for Macular Edema,
the Primary reatment
T e BR VO Clinical rial demons ra ed
ha he mean vision in a cohor o un rea ed
pa ien s wi h branch re inal vein occlusion
was approxima ely 20/ 70, while he cohor
rea ed wi h in ravi real ranibizumab once a
mon h or 6 mon hs resul ed in a mean visual
acui y o approxima ely 20/ 30. Unlike he
case wi h laser pho ocoagula ion herapy,

ranibizumab herapy does no leave visual


eld de ec s (which end o enlarge considerably over years) wi hin he macular region.
anibizumab should be considered he primary rea men herapy or he rea men o
macular edema associa ed wi h branch re inal
vein occlusion.
Sector Laser PRP
I pos erior segmen neovasculariza ion
develops, sec or laser P P in he dis ribu ion
o he obs ruc ed branch re inal vein should
be considered. T is herapy reduces he incidence o subsequen vi reous hemorrhage
rom approxima ely 60% o 30%.
I iris neovasculariza ion develops, sec or
laser P P should be considered o help preven neovascular glaucoma.
T e BR VO s udy, in which in ravi real
0.5 mg ranibizumab injec ions were given
mon hly or 6 mon hs, pa ien s gained
almos hree lines o vision, meaning hey
saw wice as well as sham herapy. T e near
vision wi hou ranibizumab a 6 mon hs was
20/ 70 a baseline improving o 20/ 32 wi h
ranibizumab.

Branch Re inal Vein Obs ruc ion (Occlusion)

165

B
FIGURE 4-18. Branch re inal vein occlusion. A. Re inal hemorrhages and cot on wool spo s are presen in
he dis ribu ion o he occluded vessel inse . B. Fluorescein angiogram corresponding o A. Re inal capillary
nonper usion is presen in he dis ribu ion o he occluded vessel. C. Op ical coherence omography in eye wi h
a branch re inal vein occlusion demons ra ing macular edema.

166

4 RETINAL VASCULAR DISEASE

CEN
N RAL
R AL RE
R E INAL
IN
N AL
VEIN
N OB
BS
S R
RUC
U C IO N
( O CCLUSIO
C CL
LU SII O N))

en ral re inal vein obs ruc ion is blockage


o blood ow wi hin he cen ral re inal

vein.

EPIDEMIOLOGY
AND ETIOLO GY
Cen ral re inal vein obs ruc ion ypically
occurs in pa ien s aged 65 years and older bu
can be seen a any age.
In he Beaver Dam Eye S udy, he prevalence was 0.1% and he 5-year incidence was
0.2%.
Bila erali y even ually occurs in approxima ely 10% o cases, more commonly in
hose wi h underlying sys emic abnormali ies.
No heredi ary pat ern is known.

PATHOPHYSIOLOGY
In ravenous hrombus a or near he
lamina cribrosa is seen in eyes wi h cen ral
re inal vein obs ruc ion s udied his opa hologically. Impingemen o he cen ral re inal
ar ery on he cen ral re inal vein is believed
o cause urbulence and subsequen endo helial damage, which predisposes o hrombus
orma ion.
Increased in raocular pressure may also
predispose o cen ral re inal vein obs ruc ion
by heore ically bowing he lamina cribrosa
pos eriorly, leading o urbulence, endo helial
damage, and hrombus orma ion.

CLINICAL SIGNS
Visual acui y: Generally, here is a his ory
o unila eral, painless visual loss occurring
over hours o days or weeks. Nonischemic

cen ral re inal vein occlusions (Fig. 4-19)


ypically are associa ed wi h vision o 20/ 200
or bet er, whereas ischemic cen ral re inal
vein obs ruc ions (Fig. 4-20AE) are associa ed wi h vision o coun ing ngers or worse.
Approxima ely 20% o eyes wi h
nonischemic cen ral re inal vein occlusion
will even ually progress o he ischemic
varian .
Pupillary changes: An af eren pupillary
de ec may be presen , increasing in severi y
as he visual acui y decreases and he degree
o ischemia increases.
An erior segmen changes: Iris neovasculariza ion (rubeosis iridis) develops in
approxima ely 20% o cases a a mean ime o
3 o 5 mon hs a er he obs ruc ion.
Pos erior segmen changes
Dila ed, or uous re inal veins
e inal hemorrhages, mos pronounced
in he pos erior pole
e inal edema, mos pronounced in he
macula
Neovasculariza ion o he op ic disc
or re ina, or bo h, or op ic disc colla erals
(Fig. 4-20F); may develop mon hs a er
he obs ruc ion

DIFFERENTIAL DIAGNOSIS
Dif eren ial diagnosis includes ocular
ischemic syndrome (Table 4-3). Diabe ic
re inopa hy can also mimic cen ral re inal
vein obs ruc ion, bu he ormer is ypically
bila eral, has prominen hard exuda es (rare
in cen ral re inal vein obs ruc ion) and many
more microaneurysms han wi h cen ral re inal vein obs ruc ion.

DIAGNOSTIC EVALUATION
In ravenous uorescein angiography
reveals delay in re inal venous lling and

Cen ral Re inal Vein Obs ruc ion (Occlusion)

167

TABLE 4-3. Di eren ial Diagnosis o Cen ral Re inal Vein Obs ruc ion
Central Retinal Vein Obstruction

Ocular Ischemic Syndrome

Vision

20/ 20hand mo ions

20/ 20no ligh percep ion

Iris neovasculariza ion

20%

67%

Re inal hemorrhages

Mild o severe

Mild

Re inal venous or uosi y

Usually presen

Absen

Macular edema

Mild o severe

Mild

Choroidal f lling

Normal

Delayed

Re inal AV ransi

Delayed

Delayed

La e ar erial s aining

Absen

Presen

Fluorescein angiography

AV, ar eriovenous.

in rare inal leakage o dye, mos prominen


in he macula, as he s udy progresses.
Increasing areas o re inal capillary nonperusion can be seen in more ischemic cases.
When he re inal capillary nonper usion (in
seven undus pho ographic elds) exceeds
75 disc areas, he incidence o developmen
o iris neovasculariza ion rises o more han
50%.
Elec rore inography: Normal a-wave
ampli ude, bu diminished b-wave ampli ude,
occurs as ischemia increases.
Sys emic workup
Sys emic ar erial hyper ension
Diabe es melli us
Hyperviscosi y syndromes (e.g., polycy hemia vera, Waldens roms macroglobulinemia, plasma cell dyscrasias such as
mul iple myeloma)
Hyperlipidemias
In amma ory or in ec ious (e.g., sarcoidosis, sys emic lupus ery hema osus,
syphilis)

Hypercoagulabili y s a es (e.g., lupus


an icoagulan syndrome, pro ein S de ciency, pro ein C de ciency, an i hrombin
III de ciency, hyperhomocys einemia)

PROGNOSIS AND
MANAGEMENT
Un il he use o in ravi real ranibizumab
injec ions or he rea men o he macular
edema associa ed wi h cen ral re inal vein
occlusion, here was no ef ec ive in erven ion.
T e C UISE Clinical rial demons ra ed ha
6-mon hly in ravi real injec ions o 0.5mg
ranibizumab resul ed in a visual acui y o
20/ 32, while he un rea ed cohor had a mean
visual acui y o 20/ 63.
According o he guidelines o he
Cen ral e inal Vein Occlusion S udy, i any
an erior chamber angle neovasculariza ion
or 2 clock hours or more o iris neovasculariza ion develops, laser P P should be
considered o help preven neovascular
glaucoma.

168

4 RETINAL VASCULAR DISEASE

FIGURE 4-19. Nonischemic cen ral re inal vein occlusion. No e he re inal hemorrhages in all our quadran s
around he op ic disc. T e visual acui y in he eye was 20/ 50.

Cen ral Re inal Vein Obs ruc ion (Occlusion)

169

B
FIGURE 4-20. Ischemic cen ral re inal occlusion. A. Re inal hemorrhage, di use re inal edema, and
numerous cot on wool spo s are presen . T e visual acui y was hand mo ions. B. Fluorescein angiogram
corresponding o A. Areas o marked re inal capillary nonper usion and macular edema are presen . Some
o he areas o hypo uorescence correspond o re inal hemorrhages.
continued

170

4 RETINAL VASCULAR DISEASE

D
FIGURE 4-20. Continued Ischemic cen ral re inal occlusion. C. Re inal hemorrhage, re inal venous
or uosi y, di use macular edema, and markedly narrowed re inal ar erioles are presen . D. Fluorescein
angiogram corresponding o C. Delayed re inal venous f lling and re inal elangiec asia are no ed. T ere is
marked hypo uorescence rom re inal ischemia and blockage rom re inal hemorrhages.
continued

Cen ral Re inal Vein Obs ruc ion (Occlusion)

171

F
FIGURE 4-20. Continued Ischemic cen ral re inal occlusion. E. Fluorescein angiogram corresponding o
C. T ere is widespread macular ischemia. F. Op ic disc colla erals shun ing re inal venous blood o he choroidal
circula ion may be no ed on he op ic disc.

172

4 RETINAL VASCULAR DISEASE

RE
E INAL
IN
N AL AR
AR ERIAL
E RIA
AL
MACROAN
MA
ACR
R O AN
N EU
EURYSM
U RYS
SM

irs described in 1973, re inal ar erial macroaneurysm is charac erized by he presence o vascular dila ion or ou pouching o a
re inal ar ery or ar eriole.

EPIDEMIOLOGY
e inal ar erial macroaneurysms occur
as isola ed phenomena in wo- hirds o he
cases. Abou one- hird o he cases are seen in
conjunc ion wi h re inal venous obs ruc ions.
en percen o cases are bila eral.

PATHOPHYSIOLOGY
T e aneurysms are believed o be clinically
similar in size (300 m) o he in racerebral
varian , al hough no associa ion wi h in racerebral aneurysms has been convincingly
demons ra ed.
T ey can occur as saccular dila ions wi hin
he vessel or as ou pouchings rom he vessel.
Abou hree quar ers o cases are associa ed wi h sys emic ar erial hyper ension.

CLINICAL SIGNS
T e en i y is ypically unila eral and isola ed. Pulsa ions o he macroaneurysm are
occasionally seen. T e wo mos common
varian s o presen a ion are as ollows:
Acu e hemorrhage may develop in he
subre inal space, re inal or prere inal region
i he macroaneurysms rup ures. A mul ilevel hemorrhage should arouse suspicion
o he presence o a macroaneurysm. A
whi e or yellow spo ( he aneurysm) is
o en presen cen rally wi hin he hemorrhage (Fig. 4-21). ecurren bleeding is
ex remely unusual.

e inal edema may be he presen ing sign when chronic leakage o plasma
encroaches upon he ovea. In his ins ance,
lipid exuda ion is also o en presen .
In approxima ely 4% o cases, a re inal
ar erial obs ruc ion dis al o he macroaneurysm is seen a he ime o presen a ion.

DIFFERENTIAL DIAGNOSIS
T e abnormali y is rela ively unique in
appearance. Aneurysmal abnormali ies associa ed wi h Coa s disease can occasionally
cause bleeding seen wi h re inal ar erial macroaneurysms, bu wi h Coa s disease here
are ypically mul iple aneurysmal ar erial or
venous dila ions, or bo h.
T e presence o mul iple, bila eral ar erial aneurysmal abnormali ies occurring
principally a ar erial bi urca ions has been
described wi h he disorder, ermed idiopa hic re inal vasculi is, aneurysms, and neurore ini is (I VAN).

DIAGNOSTIC EVALUATION
In ravenous uorescein angiography
reveals hyper uorescence corresponding o
he macroaneurysm (Fig. 4-21B). Vascular
elangiec asias surrounding he aneurysmal
abnormali y may be presen .

PROGNOSIS AND
MANAGEMENT
T e visual prognosis depends on whe her
bleeding involves he cen ral macular region.
In such ins ances, vision can be reduced
o coun ing ngers or worse. Spon aneous
improvemen can occur, par icularly when
he blood is loca ed super cially wi hin he
re ina. Involvemen o he macula by edema
can lead o visual loss, ypically ranging rom
20/ 25 o 20/ 200.

Re inal Ar erial Macroaneurysm

T e bleeding associa ed wi h macroaneurysms is no ypically rea ed. I is usually a


one- ime even , and visual improvemen can
occur when he hemorrhage is loca ed primarily wi hin he super cial layers o he re ina.
Al hough here are no randomized clinical s udies addressing he issue, mos re inal
exper s recommend rea ing he macroaneurysms when here is involvemen o he
cen ral ovea by re inal edema or hard exudaion, or bo h. rea men is given using 200- o
500- m spo size, ligh argon laser burns o

173

he aneurysm and he re ina surrounding he


abnormali y.
In approxima ely 16% o cases, rea men leads o a re inal ar erial obs ruc ion
dis al o he aneurysm. T us, rea men o
aneurysms ha could lead o an ar erial
obs ruc ion involving he cen ral macula
should be under aken wi h cau ion.
In a cross-sec ional s udy, 4% o eyes
presen ed wi h a branch re inal ar ery
occlusion dis al o he macroaneurysm.

174

4 RETINAL VASCULAR DISEASE

B
FIGURE 4-21. Re inal ar erial macroaneur ysm associa ed wi h yellowed blood. A. T e blood superiorly
is superf cial o he re inal vessels prere inal , whereas in eriorly i is loca ed in he subre inal space. T e
yellow macroaneurysm arrow is presen along he course o he re inal ar ery. B. Fluorescein angiogram
corresponding o A. T e aneurysm is hyper uorescen and loca ed along he in ero emporal re inal ar ery.

Para oveal Telangiec asis

PA
PARAFOVEAL
ARA
AF OV
VEA
AL
ELAN
E LA
AN G
GIEC
IEC
C ASIS
AS
SIS
S

ara oveal ( jux a oveal) elangiec asis is


a re inal vascular en i y charac erized by
he presence o incompe en re inal capillaries
in he oveal region o one or bo h eyes.

EPIDEMIOLOGY
AND ETIOLO GY
Group 1 para oveal elangiec asis has
been associa ed wi h an abnormal glucose
olerance in more han 30% o cases. Group
2 para oveal elangiec asis has been associa ed wi h an abnormal glucose olerance es
in more han 60% o cases. T e incidence o
para oveal elangiec asis is uncer ain. T ere is
no known heredi ary pat ern.

PATHOPHYSIOLOGY
His opa hology has shown hickening o
he walls o he re inal capillaries by a deposiion o basemen membrane. T e changes
are similar o hose seen wi h diabe ic
re inopa hy.

CLINICAL SIGNS
T e en i y is s ra i ed in o hree varian s:
Group 1: Unila eral para oveal
elangiec asis
Group 2: Bila eral para oveal
elangiec asis
Group 3: Bila eral occlusive para oveal
elangiec asis alone or associa ed wi h cenral nervous sys em occlusive vasculi is
T ere is ypically a blun ed oveal re ex
wi h localized re inal hickening mos pronounced in he emporal ovea. A grayish
macular re ex may be observed clinically

175

and highligh ed wi h red- ree pho ography.


e inal pigmen epi helial hyperplasia, mos
prominen in he emporal ovea, can be seen
in he la er s ages, as can righ -angle venules
diving in o he ou er re ina. Yellow in rare inal crys als in he ovea are also seen in
some cases (Fig. 4-22A). Despi e he re inal
hickening, he re inal cys oid changes o en
seen wi h diabe ic re inopa hy or re inal vein
obs ruc ion are no usually presen wi h paraoveal elangiec asis.
In approxima ely 5% o pa ien s, choroidal
neovasculariza ion can develop in he region
o he elangiec a ic re inal vessels.

DIFFERENTIAL DIAGNOSIS
Diabe ic re inopa hy
adia ion re inopa hy
Caro id obs ruc ive disease (ocular ischemic syndrome)
wig re inal vein obs ruc ion
Coa s disease
Macular edema associa ed wi h he
IrvineGass syndrome
Macular edema associa ed wi h uvei is
T e appearance o emporal oveal
leakage wi h uorescein angiography is
very help ul or making he diagnosis o
para oveal elangiec asis. In con ras o he
IrvineGass syndrome (macular edema a er
ca arac surgery) or uvei is associa ed wi h
macular edema, he op ic disc is no usually
hyper uorescen in eyes wi h para oveal
elangiec asis.

DIAGNOSTIC EVALUATION
T e oph halmoscopic diagnosis is o en
di cul . In ravenous uorescein angiography is o en required o make he diagnosis.
T ere is charac eris ic in rare inal leakage o

176

4 RETINAL VASCULAR DISEASE

dye loca ed primarily in he emporal macula


(Fig. 4-22B).
In he group 3 varian , areas o re inal
capillary dropou can be seen in he oveal
region.

PROGNOSIS AND
MANAGEMENT
When pa ien s rs presen , he visual acui y is o en only mildly decreased o he 20/ 20
o 20/ 30 range. Over he years, he vision

can decrease drama ically o legal blindness.


When abrup loss o vision is presen , he
possibili y o an associa ed choroidal neovascular membrane should be considered.
Laser pho ocoagula ion has no been
shown o be o bene or he rea men o
para oveal elangiec asis. Laser herapy may
be o bene in rea ing he choroidal neovasculariza ion associa ed wi h para oveal elangiec asis. Pa ien s should be made aware o
he s rong associa ion be ween an abnormal
glucose olerance es and para oveal elangiec asis, especially he group 2 varian .

A
FIGURE 4-22. Group 2 para oveal elangiec asis. A. T e emporal oveal re ina is hickened, and crys alline
deposi s are presen in his area as well. T e visual acui y in he eye was 20/ 100. Inse highligh s elangiec a ic
changes.
continued

Para oveal Telangiec asis

177

C
FIGURE 4-22. Continued Group 2 para oveal elangiec asis. B. Early phase uorescein angiogram
corresponding o A. elangiec a ic re inal vascular changes are presen surrounding he oveal avascular zone.
C. La e phase uorescein angiogram corresponding o A. In rare inal leakage o dye is presen in he vicini y o
he elangiec a ic changes in he emporal ovea.

178

4 RETINAL VASCULAR DISEASE

SICKLE
S
I C KLE
EC
CELL
E LL
RE
R
E IN
I N O PA
PA H Y

ickle cell re inopa hy describes he undus changes associa ed wi h sickle cell


hemoglobinopa hies.

EPIDEMIOLOGY
Approxima ely 10% o he U.S. popula ion
have any orm o sickle hemoglobin; 0.4%
have hemoglobin SS, 0.2% have hemoglobin
SC, and 0.03% have sickle cell halassemia
(ST al).
Proli era ive sickle re inopa hy has been
no ed o occur in Jamaican individuals wi h
sickle hemoglobinopa hy in he ollowing percen ages: SS, 3%; SC, 33%; and ST al, 14%.

PATHOPHYSIOLOGY
Sickled red blood cells cause obs ruc ion
wi hin he re inal vascula ure. Mul iple hemoglobin varian s have been described, along
wi h heir gene ic changes. Al hough SS disease is associa ed wi h more severe sys emic
disease, SC disease causes more advanced
ocular disease.

CLINICAL SIGNS
Nonproliferative Manifestations
Salmon pa ch hemorrhage: An ovalshaped area o in rare inal or prere inal blood
believed o occur secondary o an obs ruc ed
re inal ar eriole, which subsequen ly rup ures.
Iridescen spo : A small re inoschisis cavi y wi hin he super cial re ina ha can occur
as a salmon pa ch resolves. I is lled wi h
hemosiderin-laden macrophages.
Black sunburs lesion (Fig. 4-23): An
oval or round collec ion o re inal pigmen

epi helial cells ha are believed o develop


rom a salmon pa ch hemorrhage ha has
dissec ed in o he subre inal space or rom a
ocal choroidal occlusion.
Proliferative Changes
Five s ages have been described.
S age I: Peripheral re inal ar eriolar
occlusions
S age II: Peripheral re inal ar eriovenous anas omoses
S age III: Peripheral re inal neovasculariza ion (sea ans) (Fig. 4-24A)
S age IV: Vi reous hemorrhage
S age V: hegma ogenous or rac ion
re inal de achmen , or bo h

DIFFERENTIAL DIAGNOSIS
Eales disease
Proli era ive diabe ic re inopa hy
adia ion re inopa hy
e inal vein occlusion
Sarcoidosis

DIAGNOSTIC EVALUATION
A his ory o sickle cell disease may be elici ed, and hus a sickle cell prep or hemoglobin
elec rophoresis should be considered when
charac eris ic ndings are no ed.
T e disease is diagnosed by i s clinical
appearance. In ravenous uorescein angiography reveals re inal capillary nonper usion
adjacen and peripheral o areas o peripheral
re inal neovasculariza ion (Fig. 4-24).

PROGNOSIS AND
MANAGEMENT
T e visual prognosis is o en rela ively
good unless he sequelae o proli era ive

Sickle Cell Re inopa hy

sickle disease (vi reous hemorrhage or re inal


de achmen , or bo h) develop.
rea men is no indica ed or he
nonproli era ive changes o sickling hemoglobinopa hies. When peripheral re inal
neovasculariza ion is presen , ull scat er laser
pho ocoagula ion o he re ina peripheral o
he neovasculariza ion has been shown o

179

reduce he incidence o subsequen vi reous


hemorrhage. Many have advoca ed rea ing
he peripheral re ina or 360 degrees.
Para plana vi rec omy can be o bene or chronic vi reous hemorrhage.
Vi rec omy, wi h or wi hou scleral buckling,
may be o bene or he repair o re inal
de achmen .

FIGURE 4-23. Sickle cell re inopa hy, black sunburs lesion. Small, black sunburs lesion inse in an eye
wi h sickle cell re inopa hy. T ere is a sclero ic re inal vessel leading o ischemic peripheral re ina in eriorly.

180

4 RETINAL VASCULAR DISEASE

B
FIGURE 4-24. S age 3 proli era ive sickle cell re inopa hy. A. Orange sea ans, or areas o peripheral
re inal neovasculariza ion, are presen a he junc ure o per used and ischemic peripheral re ina. B. Fluorescein
angiogram corresponding o A a 29 seconds a er injec ion. T e sea ans are hyper uorescen , and re inal
capillary nonper usion is visible adjacen o hem on he le side o he pho o.
continued

Sickle Cell Re inopa hy

181

C
FIGURE 4-24. Continued S age 3 proli era ive sickle cell re inopa hy. C. La e phase uorescein angiogram
showing marked leakage o uorescein dye in o he vi reous rom he re inal sea an neovasculariza ion.

182

4 RETINAL VASCULAR DISEASE

RADIA
R
AD
D I A IO
ON
RE
R
E IN
I N O PA
PA H Y

adia ion re inopa hy re ers o damage


induced o he re ina or op ic nerve, or
bo h, by ex ernal beam irradia ion ( ele herapy) or by localized irradia ion (brachy herapy). T e op ic nerve changes are re erred o
as radia ion op ic neuropa hy.

EPIDEMIOLOGY
AND ETIOLO GY
Damage rom ex ernal beam irradia ion
o en occurs rom irradia ion o s ruc ures
adjacen o he eyes (brain, oropharynx, e c.).
ypically, a minimum dose o 1500 cGy (cenigray) o ex ernal beam irradia ion is required
o induce re inopa hy. T e mean dose is abou
5000 cGy. A a dose o 7000 o 8000 cGy,
85% o eyes will develop radia ion re inopahy. Frac ion sizes o more han 200 per day
appear o ampli y he chances o radia ion
damage. For 60Co brachy herapy, a minimum
o 20,000 cGy o he umor base is necessary
o induce radia ion changes, wi h he average
dose over 30,000 cGy.

PATHOPHYSIOLOGY
adia ion re inopa hy and op ic neuropahy are caused primarily by damage o he
vascula ure o he respec ive s ruc ures.

T e re inal changes (Fig. 4-25) are characerized by he presence o cot on-wool spo s,
re inal hemorrhages, and hard exuda ion.
Neovasculariza ion o he op ic disc or re ina,
or bo h, can develop as well. Op ic nerve
changes are charac erized by disc edema, a
imes in conjunc ion wi h peripapillary subre inal uid and lipid exuda ion (Fig. 4-26).
e inopa hy and op ic neuropa hy can occur
concomi an ly or separa ely.
T e undus ndings wi h brachy herapy
are similar o hose wi h ele herapy
(Fig. 4-27), al hough hard exuda ion
ends o be a more prominen ea ure
wi h brachy herapy (Fig. 4-28).

DIFFERENTIAL DIAGNOSIS
adia ion re inopa hy can closely mimic
diabe ic re inopa hy. T ere are usually more
microaneurysms presen wi h diabe ic re inopa hy han wi h radia ion re inopa hy. Key
o he diagnosis o radia ion is he elici a ion
o a his ory o radia ion o or around he
eyes.

DIAGNOSTIC EVALUATION
In ravenous uorescein angiography
reveals re inal capillary dropou , re inal vascular elangiec ases, and la e leakage o dye rom
he damaged vessels.

CLINICAL SIGNS

PROGNOSIS
AND MANAGEMENT

adia ion changes usually occur a a mean


ime o 12 o 18 mon hs a er he erminaion o radia ion, wi h a range rom 1 mon h
o 7 years. T e condi ion can be unila eral or
bila eral, depending on he elds included in
he irradia ion.
Visual acui y is variable, depending on he
degree o damage o he re inal or op ic nerve
vascula ure.

T e visual prognosis depends on he dose


o radia ion received. T e presence o chemo herapy, sys emic ar erial hyper ension,
diabe ic re inopa hy, and o her diseases ha
can damage he re inal vascula ure appear o
be addi ive o he radia ion damage.
Wi h brachy herapy or choroidal melanoma, abou wo- hirds o he eyes have

Radia ion Re inopa hy

20/ 200 vision or bet er a 2 o 3 years a er


rea men .
Approxima ely 25% un rea ed eyes wi h
radia ion re inopa hy rom ex ernal beam
irradia ion progress o develop iris neovasculariza ion o he iris and neovascular
glaucoma.
Macular edema can be rea ed wi h ocal
laser herapy in a ashion similar o he

183

rea men o clinically signi can macular


edema in he Early rea men Diabe ic
e inopa hy S udy. Laser P P is indica ed
when neovasculariza ion o he iris or pos erior segmen neovasculariza ion develops.
T ere is no known ef ec ive rea men or
radia ion op ic neuropa hy, bu spon aneous
improvemen o vision occurs in abou 20%
o cases.

184

4 RETINAL VASCULAR DISEASE

B
FIGURE 4-25. Radia ion re inopa hy a er ele herapy. A. Cot on wool spo s and small re inal hemorrhage
are presen in he pos erior pole. B. Fluorescein angiogram corresponding o A a 25 seconds a er injec ion. T e
cot on wool spo s are hypo uorescen . No e he radia ion induced capillary elangiec asia a he ovea and below
he in erior re inal vascular arcade where capillary nonper usion is no ed.
continued

Radia ion Re inopa hy

185

C
FIGURE 4-25. Continued Radia ion re inopa hy a er ele herapy. C. Fluorescein angiogram corresponding
o A a 375 seconds a er injec ions. T e cot on wool spo s are now more hyper uorescen due o leakage o dye
rom he re ina a heir border.

FIGURE 4-26. Radia ion op ic neuropa hy a er ele herapy. T e op ic disc is swollen and surrounded by
peripapillary lipid exuda es and subre inal uid.

186

4 RETINAL VASCULAR DISEASE

FIGURE 4-27. Radia ion re inopa hy ollowing brachy herapy or a choroidal melanoma. Cot on wool
spo s are presen in he peripapillary region.

FIGURE 4-28. Radia ion re inopa hy surrounding a choroidal melanoma rea ed wi h brachy herapy.
Marked lipid exuda ion is presen a he necro ic umor base.

Lipemia Re inalis

LIPEMIA
L
IPE
E MII A R
RE
E IINALIS
NA
AL IS
S

ipemia re inalis re ers o salmon-colored


re inal ar eries and re inal veins
due o eleva ed lipids, mos commonly
hyper riglyceridemia.

PATHOPHYSIOLOGY
Eleva ed serum lipid levels may cause
re inal vascular obs ruc ion. T e lipid abnormali ies are ypically heri able lipid me abolic
abnormali ies.

CLINICAL SIGNS
Pale conjunc iva may resul rom lipemic
conjunc ival blood vessels. Fundus examina ion reveals salmon-colored re inal ar eries and veins wi hou skip areas (Fig. 4-29).

DIFFERENTIAL DIAGNOSIS
e inal vascular whi ening can be
observed in prior re inal vascular occlusion
or in re inal vasculi is. T ese are ypically
con ned o he re inal ar erial or venous

187

sys ems and ypically have skip segmen s


where he re inal vascula ure is unaf ec ed.
Lipemia re inalis shows dif use re inal
ar erial and venous involvemen .

DIAGNOSTIC EVALUATION
Fundus biomicroscopic examina ion
reveals he charac eris ic re inal appearance described earlier and usually su ces o
promp sys emic lipid evalua ion.
Fluorescein angiography may be ob ained
o evalua e re inal per usion; areas o re inal
elangiec asia may be observed.
Family members should be evalua ed, and
sys emic evalua ion is indica ed because o
po en ial problems such as pancrea i is.

PROGNOSIS AND
MANAGEMENT
T e visual prognosis can be good or
pa ien s who do no develop re inal vascular
occlusive disease.
rea men is direc ed oward decreasing
he causa ive lipemic ac or.

188

4 RETINAL VASCULAR DISEASE

B
FIGURE 4-29. Lipemia re inalis. A. A pa ien wi h markedly eleva ed riglyceride lipid levels who presen ed
wi h a branch re inal vein occlusion and lipemic yellow re inal vessels and microaneurysms. B. A er rea men
wi h oral lipid lowering agen s, he re inal vascula ure assumes normal coloring.

C H AP T ER

Re inal Degenera ions


and Dys rophies
Mithlesh C. Sharma and Allen C. Ho

BES
B
E S S
SD
DISEASE
I E
IS
EA
ASE
E

es s disease, also known as vi elli orm


macular dys rophy, is a macular dys rophy ha is clinically charac erized by an egg
yolk-like lesion a he level o he re inal pigmen epi helium (RPE), usually loca ed in he
pos erior pole. T e disease progresses hrough
various s ages o culmina e in macular a rophy
or scarring wi h loss o cen ral vision.

EPIDEMIOLOGY
AND ETIOLO GY
Symp oms develop in in ancy or early
childhood.
An excessive amoun o lipo uscin-like
ma erial wi hin he re inal pigmen epi helial
cells, par icularly in he ovea, is observed.
T ere appears o be a secondary loss o he
pho orecep or cells.
I is an au osomal-dominan disease whose
gene is mapped o chromosome 11q13.

CLINICAL SIGNS
Five s ages are delinea ed.
1. Previ elli orm s age: Pa ien s are
asymp oma ic wi h no undus abnormali y, bu elec rooculography shows a
reduced ligh -peak o dark- rough ra io.
2. Vi elli orm s age: T is s age is charac erized by an egg yolk-like lesion in
he macular area. I is usually de ec ed
during he f rs or second decade o li e.
Al hough usually single and bila erally
symme ric, mul iple egg yolk lesions
may be observed in he pos erior pole.
T e egg yolk lesions are loca ed a he
level o he RPE, are rounded or oval in
shape wi h dis inc borders, and range
rom one-hal o wo disc diame ers in
size. Vision may be normal or sligh ly
decreased a his s age (Fig. 5-1).
3. Pseudohypopyon s age: By he second
or hird decade o li e, lesions break
hrough he RPE, and he yellow ma erial accumula es in eriorly in he macula
189

190

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

wi hin he subre inal space o orm


pseudohypopyon (Fig. 5-2).
4. Vi ellirup ive s age: T e egg yolk breaks
up o produce a scrambled egg appearance. Pa ien s usually no ice some visual
impairmen a his s age (Fig. 5-3).
5. End s age: Subre inal f brosis, or a vascularized scar wi h choroidal neovasculariza ion, con ribu es o he visual loss
a his s age.
T e vi elli orm degenera ion presen ing
a er childhood is called adul Bes s disease.
In he lat er varian , he yellow oveal deposi s
are symme ric and similar o childhood Bes s
disease excep ha he lesions are smaller and
have a cen ral pigmen ed spo . T e mos common lesion mis aken or Bes s disease is a yellow premacular hemorrhage (Fig. 5-4).

Color vision: Mild dyschroma opsia may


be no iced.
Dark adap ome ry is normal.
Elec rore inography is normal.
Elec rooculography: Bes s disease is one
o he ew condi ions ha resul s in an abnormal elec rooculogram (EOG) in he set ing o
a normal elec rore inogram (ERG). During
an EOG, he ligh -peak:dark- rough ra io
(Arden ra io) is ypically below 1.5.
Fluorescein angiography: In he vi elli orm
s age, comple e blockage o background choroidal uorescence by he lesion is observed.
Areas o hyper uorescence due o a rophic
RPE are no iced as he egg yolk lesions show
disrup ion.

DIAGNOSTIC EVALUATION

PROGNOSIS AND
MANAGEMENT

Visual acui y: Vision remains good while


he egg yolk lesions are in ac . Disrup ion or
scarring o he lesions may reduce visual acui y o he level o 20/ 200.
Visual f elds: Cen ral visual f elds are
normal ini ially, bu a rela ive sco oma may
develop wi h ime.

In general, he overall prognosis is good as


mos pa ien s re ain reading level o vision in
a leas one eye hroughou li e.
When severe vision loss does ake place
in an eye, i occurs slowly and usually begins
a er he age o 40 years.
No rea men is available or Bes s disease.

Bes s Disease

191

B
FIGURE 5-1. Bes s disease, vi elliform s age. A. Charac eris ic egg yolk like lesion in he ovea.
B. Corresponding f uorescein angiogram showing blocked f uorescence due o egg yolk lesion during ransi
phase. (Cour esy o Re ina Slide Collec ion, Wills Eye Hospi al, Philadelphia, Pennsylvania, compiled by
Dr. amara Vrabec and Dr. Gordon Byrnes.)

192

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

B
FIGURE 5-2. Bes s disease, pseudohypopyon s age. A. Collec ion o yellow ma erial wi hin he subre inal
space simula ing hypopyon ( arrow) . B. Blocked f uorescence (arrow) due o deposi ion o yellow ma erial
in eriorly and peri oveal hyperf uorescence in he cen er o he lesion is seen in f uorescein angiogram
pho ographs. Cour esy o Re ina Slide Collec ion, Wills Eye Hospi al, Philadelphia, Pennsylvania, compiled
by Dr. amara Vrabec and Dr. Gordon Byrnes.)

Bes s Disease

193

B
FIGURE 5-3. Bes s disease, vi ellirup ive s age. A. Irregular areas o re inal pigmen epi helial loss secondary
o breakup o he egg yolk lesion ( arrow) . B. In ense peri oveal hyperf uorescence surrounded by mul iple areas
o hyperf uorescence is shown in he corresponding f uorescein angiogram. (Cour esy o Re ina Slide Collec ion,
Wills Eye Hospi al, Philadelphia, Pennsylvania, compiled by Dr. amara Vrabec and Dr. Gordon Byrnes.)

194

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

B
FIGURE 5-4. PseudoBes s disease. A. Old premacular hemorrhage simula ing he egg yolk lesion o Bes s
disease. No e ha he re inal vessels are obscured by he prere inal lesion ( arrow) . Sligh ly irregular borders
o he lesion and presence o neighboring re inal hemorrhages are clues o he yellow lesion being an old
hemorrhage. B. Fluorescein angiogram demons ra ing microaneurysms and re inal elangiec asia emporal
o he lesion, consis en wi h diabe ic re inopa hy and a premacular hemorrhage.

ConeDys rophy

CO
O N E DYS
D YS RO
R O PH Y

one dys rophy is an inheri ed de ec ha


primarily a ec s he cone pho orecep or
sys em.

EPIDEMIOLOGY
AND ETIOLO GY
Symp oms begin in early childhood o
middle adul hood.
Cone dys rophy is primarily au osomal
dominan , al hough au osomal-recessive and
X-linked orms have also been repor ed.

HISTORY
T e ra e o progression and he severi y o signs and symp oms are variable. T e
symp oms consis o progressive visual loss,
hemeralopia (decreased vision in brigh ly illumina ed environmen ), color vision di culies, and cen ral visual f eld de ec s.
Macular changes ypically ollow he visual
dis urbances; here ore, early in he disease
process he undus may appear en irely
normal.

CLINICAL SIGNS
T ere is gradual, ypically symme ric
loss o visual acui y o he level o 20/ 200.
Occasionally, his may be reduced o he level
o coun ing f ngers o hand mo ion acui y.
Fundus changes are variable (Fig. 5-5).
Early in he disease process, pigmen ary
s ippling wi h di use pigmen granulari y
in he pos erior pole is he mos common
abnormali y observed. T e classic bulls-eye
pat ern o re inal pigmen epi helial a rophy is
a la e f nding. In advanced cases, a round, discre e area o cen ral a rophy is seen. emporal
pallor o he op ic disc may be observed.

195

DIFFERENTIAL DIAGNOSIS
Reduced vision wi h normal undus in children: In his ca egory, cone dys rophy should
be di eren ia ed rom S argard s disease.
Bulls-eye maculopa hy: T e ollowing
causes o bulls-eye maculopa hy need o be
considered in he di eren ial diagnosis:
S argard s disease
Chloroquine oxici y
Bat ens disease
Benign concen ric annular macular
dys rophy
Lebers congeni al amaurosis

DIAGNOSTIC EVALUATION
Visual f elds: Cen ral sco oma is usually seen.
Color vision: Reduced.
Dark adap ome ry: T e cone componen
o he dark adap a ion curve is abnormal.
Elec rore inography: T e single- ash
pho opic ERG and he pho opic icker ERG
are low or unrecordable. T e sco opic ERG is
usually normal.
Fluorescein angiography: T e re inal pigmen epi helial changes in he macular area
may be visible by uorescein angiography
be ore hey can be visualized clinically. Early
in he disease process, a mot led hyper uorescence is seen. As he bulls-eye pat ern
o re inal pigmen epi helial loss develops,
hyper uorescence surrounding a cen ral area
o hypo uorescence is observed.

PROGNOSIS AND
MANAGEMENT
T e visual loss is gradual and symme ric o
he level o 20/ 200. However, i may occasionally be severe enough o cause a visual acui y o
coun ing f ngers o hand mo ion. T e visual loss
is more severe in early-onse cases.
No rea men is available or cone dys rophy.

196

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

B
FIGURE 5-5. Cone dys rophy. A. Early bulls eye maculopa hy in a pa ien wi h cone dys rophy (inse ) .
No e he emporal op ic disc a rophy ( arrow) . B. Corresponding f uorescein angiogram showing cen ral
hypof uorescence surrounded by a ring o hyperf uorescence seen during he ransi phase ( box) .
(continued)

Cone Dys rophy

197

D
FIGURE 5-5. ( Continued) Cone dys rophy. C. T e hyperf uorescence ades away in he la er rame indica ing
he presence o window de ec s due o re inal pigmen epi helial a rophy. D. Advanced cone dys rophy wi h a
classic bulls eye maculopa hy. No e he emporal op ic disc pallor. (Cour esy o Dr. Joseph Maguire and he
Re ina Slide Collec ion, Wills Eye Hospi al, Philadelphia, Pennsylvania, compiled by Dr. amara Vrabec and
Dr. Gordon Byrnes.)

198

PA

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

ER
ERN
RN D
DYS
YS RO
O PH
PH Y

at ern dys rophy describes a group o


rela ed condi ions ha are inheri ed in
an au osomal-dominan ashion and are clinically charac erized by variably shaped yellow
or gray deposi s in he macula.

EPIDEMIOLOGY
AND ETIOLO GY
Symp oms begin in middle age.
T e disease has an au osomal-dominan
pat ern. Gene ic analysis o pa ien s wi h bu er y dys rophy has shown mu a ion in he
peripherin/ RDS gene, loca ed on he shor
arm o chromosome 6. T e peripherin gene
produc plays an impor an role in he s rucural in egri y o pho orecep or ou er segmen discs. However, his mu a ion does no
correspond o a par icular pheno ype. T a is,
o her orms o re inal degenera ion have been
linked o peripherin/ RDS gene mu a ions.

macular region. Arim o re inal pigmen


epi helial a rophy around he pigmen f gure,
which is more apparen on uorescein angiography, may also be seen (Figs. 5-6 and 5-7).
A single, round, vi elli orm lesion in
he ovea (adul -onse oveomacular vi elli orm dys rophy).
Ex ensive macular f shne arrangemen
(re icular dys rophy).
Coarse pigmen mot ling o he macula
( undus pulverulen us) (Fig. 5-8).
T e a ec ed members o a given pedigree
may have di eren pat erns, and he pat erns
may di er in he eyes o an a ec ed individual. Even a change rom one o ano her
pat ern over ime may be observed.

DIFFERENTIAL DIAGNOSIS
Large drusen: Oph halmoscopically, he
yellow pigmen f gures o pat ern dys rophy
may be con used wi h he large drusen o agerela ed macular degenera ion.

HISTORY

DIAGNOSTIC EVALUATION

Mos pa ien s are ei her asymp oma ic or


have minimal visual dis urbances. ypically,
he diagnosis is made on rou ine undus
examina ion o a middle-aged adul .

Visual f elds: Normal, excep or minimally


reduced sensi ivi y in he macular area.
Color vision, dark adap ome ry, elec rore inography: Normal.
Elec rooculography: Mildly abnormal,
which is consis en wi h he dis urbed re inal
pigmen epi helial unc ion.
Fluorescein angiography: Pigmen f gures
are hypo uorescen hroughou he s udy.
T e re inal pigmen epi helial a rophy around
he lesions produces hyper uorescence.

CLINICAL SIGNS
Visual acui y: Pa ien s may have normal
visual acui y up o he f h or six h decade
o li e. Reduced vision and me amorphopsia
may be he presen ing symp oms.
Oph halmoscopically: T e ollowing pa erns o pigmen deposi s in he macular area
may be observed:
Mos commonly, a bila eral, riradia e
(but er y) pat ern o yellow or gray pigmen a he level o he RPE in he cen ral

PROGNOSIS
T e prognosis or re en ion o good cenral vision in a leas one eye hroughou li e
is excellen .

Pat ern Dys rophy

199

B
FIGURE 5-6. Pat ern dys rophy. A and B. Bila eral, mul iple, discre e, yellow areas a he level o he re inal
pigmen epi helium (RPE) in he cen ral macular region (inse ) .
( continued)

200

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

C
FIGURE 5-6. ( Continued) Pat ern dys rophy. C. T e lesions are more pronounced in he corresponding
f uorescein angiogram image o he righ eye, where here is pa chy hyperf uorescence.

Pat ern Dys rophy

201

B
FIGURE 5-7. Pat ern dys rophy. A. Classic riradia e ( but erf y) pat ern o pigmen deposi s a he ovea
(inse ) surrounded by mul iple areas o re inal pigmen epi helial a rophy. B. Fluorescein angiogram showing
pa chy hyperf uorescence in he ar eriovenous phase. T e hyperf uorescen areas correspond o re inal pigmen
epi helial a rophy in he macular region. (Cour esy o Dr. Eric Shakin and he Re ina Slide Collec ion, Wills Eye
Hospi al, Philadelphia, Pennsylvania, compiled by Dr. amara Vrabec and Dr. Gordon Byrnes.)

202

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

B
FIGURE 5-8. Pat ern dys rophy, fundus pulverulen us. Fluorescein angiogram pho ographs o bo h eyes
showing radia ing pat ern o hypof uorescence due o coarse pigmen deposi s a he level o RPEre icular
dys rophy. (Cour esy o Dr. William Annesley, and he Re ina Slide Collec ion, Wills Eye Hospi al, Philadelphia,
Pennsylvania, compiled by Dr. amara Vrabec and Dr. Gordon Byrnes.)

S argard s Disease

S ARGARD S DISEASE

argard s disease is a macular dys rophy


ha is charac erized by he presence o discre e, yellow, pisci orm ecks a he level o he
RPE. Curren ly, S argard s disease and undus
avimacula us are regarded as varian s o he
same disorder. T e erm undus f avimaculatus is
generally applied when he charac eris ic ecks
are scat ered hroughou he undus. When he
ecks are conf ned o he pos erior pole and are
associa ed wi h macular a rophy, he condi ion
is described as S argard s disease.

EPIDEMIOLOGY
AND ETIOLO GY
T e disease usually presen s in he f rs or
second decade o li e.
Bo h sexes are a ec ed equally.
S argard s disease is usually au osomal
recessive, al hough dominan ly inheri ed cases
have been described. T e gene or au osomalrecessive S argard s disease is loca ed on
chromosome 1. T is gene codes or an A Pbinding ranspor pro ein (ABCR) ha is
expressed in he rod inner segmen s, bu no
he RPE. A homozygous mu a ion in he
ABCR gene causes undus avimacula us.

HISTORY
Children wi h S argard s disease are usually brough o he at en ion o an oph halmologis as a resul o a gradual impairmen
o vision no iced by he paren s or a er ailing
a school vision screening.

CLINICAL SIGNS
Visual acui y is sligh ly a ec ed in he
beginning bu may be severely reduced in

203

he la er s age o disease. Loss o he oveal


re ex may be he only ini ial clinical f nding.
Discre e, yellowish, pisci orm ecks loca ed
a he level o he RPE are o en no iced a
some poin in he course o disease. T e
ecks may or may no involve he macula
(Fig. 5-9). Peri oveal re inal pigmen epi helial mot ling may become eviden wi h he
progression o disease.
A bulls-eye pat ern o re inal pigmen
epi helial loss may become apparen , paricularly by uorescein angiography. T e
macula classically develops a bea en
bronze appearance corresponding o a rophy o he cen ral RPE in he advanced
s age o disease (Figs. 5-10 and 5-11).
His opa hology shows an accumula ion o
an abnormal lipo uscin-like ma erial in he
RPE (Fig. 5-12).

DIFFERENTIAL DIAGNOSIS
Cone dys rophy: reduced vision and normal undus in a child
Bulls-eye maculopa hy: chloroquine
oxici y, Bat ens disease, benign concen ric
annular macular dys rophy

DIAGNOSTIC EVALUATION
Visual f elds: Usually a cen ral sco oma
is no ed, bu a paracen ral sco oma, cen ral
cons ric ion, and a ring sco oma may also be
seen, especially early in he disease.
Color vision: Mild dyschroma opsia o red
and green may be no ed.
Dark adap ome ry: Dark adap a ion may
be delayed.
Fluorescein angiography: Fea ures ha
may help conf rm he diagnosis o S argard s
disease include dark or silen choroid;

204

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

mul iple, irregular hyper uorescen spo s ha


do no precisely correspond o he ecks; and
a bulls-eye window-de ec pat ern o hyperuorescence in he macula.
Elec rore inography: Usually normal bu
may be reduced wi h increasing amoun s o
peripheral ecks and a rophy.
Elec rooculography: Usually subnormal.

PROGNOSIS AND
MANAGEMENT
T e majori y o pa ien s preserve modera e visual acui y (20/ 70 o 20/ 200), a leas
in one eye.
No e ec ive rea men is available or
S argard s disease.

S argard s Disease

205

B
FIGURE 5-9. S argard s disease. A. Mul iple, discre e, yellow, pisci orm f ecks (inse shows one f eck)
loca ed a he level o he RPE wi h corresponding hyperf uorescen areas in he f uorescein angiogram
pho ograph are dis ribu ed hroughou he pos erior pole o he le eye. B. T e background choroid is dark on
he f uorescein angiogram pho ograph, and here is ransmission hyperf uorescence associa ed wi h macular
f ecks and re inal pigmen epi helial al era ions. (Cour esy o Re ina Slide Collec ion, Wills Eye Hospi al,
Philadelphia, Pennsylvania, compiled by Dr. amara Vrabec and Dr. Gordon Byrnes.)

206

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

B
FIGURE 5-10. S argard s disease. A. Advanced S argard s disease wi h bea en bronze macula.
B. Corresponding f uorescein angiogram showing a cen ral area o hypof uorescence (re inal pigmen epi helial
clumping) surrounded by a ring o hyperf uorescence (re inal pigmen epi helial a rophy) . No e he dark or
silen choroid ( blocked f uorescence) .
( continued)

S argard s Disease

207

C
FIGURE 5-10. ( Continued) S argard s disease. C. S argard s disease wi h bulls eye macula. Compare wi h
Figure 5-5D. No e he bea en bronze appearance o he macula (inse ) . (Cour esy o Dr. Eric Shakin and he
Re ina Slide Collec ion, Wills Eye Hospi al, Philadelphia, Pennsylvania, compiled by Dr. amara Vrabec and
Dr. Gordon Byrnes.)

208

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

B
FIGURE 5-11. S argard s disease. A. Severe loss o RPE in a geographic ashion in he cen ral macular region
in a pa ien wi h advanced S argard s disease. T e visual acui y was reduced o 20/ 200. B. Corresponding
f uorescein angiogram showing irregularly dis ribu ed areas o hypof uorescence and hyperf uorescence, wi h a
discre e rim o hyperf uorescence wi hin he area o geographic pat ern o re inal pigmen epi helial loss. Dark
choroid is apparen beyond he macula.

S argard s Disease

209

FIGURE 5-12. S argard s disease, elec ron micropho ograph. Elec ron micropho ograph showing enlarged
re inal pigmen epi helial cells due o in racellular accumula ion o lipo uscin like ma erial. (Cour esy o
Dr. Ralph Eagle, Wills Eye Hospi al, Philadelphia, Pennsylvania.)

210

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

CH
H O RO
R O IDEREMIA
ID
D ER
R E M IA
A

horoideremia is a generalized heredi ary


re inal degenera ion ha primarily a ec s
he choriocapillaris and he RPEpho orecep or
complex.

EPIDEMIOLOGY
AND ETIOLO GY
Symp oms are usually no ed in he f rs or
second decade o li e.
Only males are a ec ed, and emales are
carriers.
Choroideremia is an X-linked recessive
disorder.

HISTORY
Pa ien s usually presen in he f rs or second decade o li e wi h a chie complain o
di cul y wi h nigh vision.

CLINICAL SIGNS
Early in he disease process, undus
appearance in he a ec ed males is a sal -andpepper re inal pigmen epi helial mot ling
a he equa or and he pos erior pole. Below
he re inal pigmen epi helial mot ling, he
underlying choroid may appear clinically normal, bu uorescein angiography may show a
pa chy loss o choroidal vascula ure.
La er in he disease process, small areas o
he RPE drop ou in he midperiphery. T ese
areas o drop-ou even ually coalesce and
progress cen rally. T e macula is involved las
(Fig. 5-13). In he f nal s ages, he en ire undus, wi h an excep ion o he macula, shows

he di use yellowwhi e re ex o he underlying sclera.


Female carriers show unique and pa hognomonic undus ea ures. T e generalized
re inal pigmen epi helial mot ling, especially in he midperiphery, resembles he
changes seen in males in he early s age o
disease. T e undus changes in emale carriers remain s a ionary, and he uorescein
angiography reveals an in ac choroidal
vascula ure.

DIFFERENTIAL DIAGNOSIS
Re ini is pigmen osa: Unlike re ini is
pigmen osa (RP), in choroideremia a bonespicule pat ern o pigmen ary change is
usually no seen, and he re inal blood vessels
remain rela ively normal.
Gyra e a rophy: In he f nal s ages, undus
appearance in choroideremia may resemble
gyra e a rophy, bu he di eren mode o
gene ic ransmission is an impor an dis inguishing ea ure.

DIAGNOSTIC EVALUATION
Visual Fields: T ere is a loss o peripheral
visual f eld.
Elec rore inography: T is may be normal
during he early s age, bu by he end o he
f rs decade he sco opic ERG becomes nonrecordable and he pho opic ERG is severely
reduced.
Fluorescein angiography: In he early
s age, despi e he clinically normal-appearing
choroid, uorescein angiography may reveal
a pa chy loss o choriocapillaris. La er in he
disease, an ex ensive loss o choroidal vasculaure is observed (Figs. 5-14 and 5-15).

Choroideremia

PROGNOSIS AND
MANAGEMENT
Rela ively good cen ral vision is preserved
un il la e in he disease because he macula is
a ec ed la e. Al hough he ra e o progression
may vary wi hin a pedigree, he majori y o

211

pa ien s usually have severely reduced vision


by he age o 35 years.
Female carriers usually re ain normal
visual unc ion hroughou heir li e.
No rea men is available or
choroideremia.

212

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

B
FIGURE 5-13. Choroideremia. Mul iple areas o re inal pigmen epi helial loss, some o which have coalesced
o orm larger pa ches. No e ha he ovea is spared and he pa ien had 20/ 40 vision in his eye. (Cour esy o
Re ina Slide Collec ion, Wills Eye Hospi al, Philadelphia, Pennsylvania, compiled by Dr. amara Vrabec and
Dr. Gordon Byrnes.)

Choroideremia

213

B
FIGURE 5-14. Early choroideremia. Peripapillary loss o he RPE (A) and sub le pigmen ary mot ling in
he midperipheral undus (B) can be seen (inse ). Similar undus ndings can be observed in emale carriers o
choroideremia. (Cour esy o Re ina Slide Collec ion, Wills Eye Hospi al, Philadelphia, Pennsylvania, compiled
by Dr. amara Vrabec and Dr. Gordon Byrnes.)

214

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

B
FIGURE 5-15. La e choroideremia. A. Ex ensive loss o choriocapillaris is eviden in he corresponding la e
phase f uorescein angiogram pho ograph (same pa ien as in Figure 5-13A) . B. Equa or plus red ree undus
pho ograph showing mul iple pa ches o he re inal pigmen epi helial loss ex ending rom he pos erior pole o
he midperiphery (same pa ien as in Figure 5-13B) . (Cour esy o Re ina Slide Collec ion, Wills Eye Hospi al,
Philadelphia, Pennsylvania, compiled by Dr. amara Vrabec and Dr. Gordon Byrnes.)

Gyra e A rophy

GYRA
GY
YRA
A EA R
RO
O PH Y

yra e a rophy is a rare choroidal disorder, which is usually ransmit ed in an


au osomal-recessive ashion and is caused by
an absence or near-absence o he pyridoxinedependen mi ochondrial ma rix enzyme
orni hine amino rans erase.

EPIDEMIOLOGY
AND ETIOLO GY
Symp oms begin in he f rs decade o li e.
T e disorder is au osomal recessive.
Eleva ed levels o orni hine in he plasma
and urine in pa ien s wi h gyra e a rophy are
caused by an absence or near-absence o he
pyridoxine-dependen mi ochondrial ma rix
enzyme orni hine amino rans erase. T e la er is necessary or he breakdown o excess
orni hine in humans.

HISTORY
T e usual presen ing symp oms are poor
nigh vision and cons ric ed visual f elds.

CLINICAL SIGNS
Early in he disease, a hinning and ransparency o he RPE, beginning in he midperiphery, is observed. T e underlying choroid
may appear ei her normal or sclero ic. T e
a ec ed areas are separa ed rom he normalappearing re ina by scalloped borders. T e
involved areas begin as isola ed pa ches bu
la er coalesce (Fig. 5-16).
Progression o he disease is accompanied
by pigmen clumping and choroidal a rophy.
Even ually he en ire choroidal vascula ure
disappears, exposing he whi e sclera. T e
op ic disc and he re inal vessels may be

215

normal early in he disease, as ime passes


blood vessels show a gradual narrowing.
In he la er s ages, marked choroidal a rophy rom he periphery o he pos erior pole
is eviden . However, he macula is usually
spared. Macular involvemen may be in he
orm o macular edema or rela ed o progression o a rophic changes.

ASSOCIATED CLINICAL SIGNS


Ocular
Myopia: Almos invariably presen
Ca arac : Seen in a high propor ion o
pa ien s wi h gyra e a rophy
Sys emic
Charac eris ically hin, sparse, s raigh
hair
Less consis en f ndings: Abnormal
elec roencephalogram, muscle weakness,
abnormal elec rocardiogram, and seizures

DIFFERENTIAL DIAGNOSIS
Choroideremia: In la e s ages, undus
appearance o choroideremia and gyra e
a rophy can be remarkably similar. However,
di eren modes o gene ic ransmission and
he dis inc ive undus ea ures in he emale
carriers o choroideremia are impor an disinguishing ea ures.

DIAGNOSTIC EVALUATION
Visual f elds: Cons ric ion o he peripheral visual f elds corresponds o he expansion
o he undus changes.
Fluorescein angiography: A loss o choriocapillaris is demons ra ed in he a ec ed areas.
Elec rore inography: Severely diminished
or abolished ampli udes.

216

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

Elec rooculography: Abnormal.


O her: Eleva ed serum orni hine levels and
markedly decreased orni hine amino rans erase
ac ivi y in cul ured f broblas s or leukocy es.

PROGNOSIS AND
MANAGEMENT
Pa ien s are usually legally blind by he
our h o seven h decade o li e. However, earlier visual loss may resul rom ca arac .

Pyridoxine (vi amin B6) may help normalize he plasma and urinary orni hine
levels and preserve visual unc ion. On he
basis o a response o vi amin B6, gyra e
a rophy may have wo clinically di eren
sub ypes. Pa ien s responsive o vi amin B6
usually have a less severe and more slowly
progressive clinical course han pa ien s who
are no responsive.
A low-pro ein die , par icularly a lowarginine die , may also be o benef .

Gyra e A rophy

217

B
FIGURE 5-16. Gyra e a rophy. A. Bila eral, mul iple, geographic pa ches o re inal pigmen epi helial loss wi h
scalloped borders (inse ) are presen in he pos erior pole and he peripapillary area. B. Scat ered pigmen ary
clumping is also visible.
( continued)

218

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

D
FIGURE 5-16. ( Continued) Gyra e a rophy. C and D. Ex ensive a rophy o he RPE and he choroidal
vascula ure is eviden in he corresponding f uorescein angiogram pho ographs. T e ovea is spared in bo h
eyes, and he pa ien s visual acui y was 20/ 40 OD, 20/ 30 OS. (Cour esy o Re ina Slide Collec ion, Wills Eye
Hospi al, Philadelphia, Pennsylvania, compiled by Dr. amara Vrabec and Dr. Gordon Byrnes.)

Congeni al S a ionary Nigh Blindness

CONGENI
C
ONG
G EN
N I AL S A IO
IONARY
O N AR
RY
N IGH
H B
BLIN
L IN DN
D N ESS
ES
SS

ongeni al s a ionary nigh blindness


(CSNB) is a group o disorders ha is
charac erized by de ec ive nigh vision, which
remains s able hroughou li e.

CLASSIFICATION
CSNB wi h normal undus appearance.
CSNB wi h abnormal undus appearance:
T is group includes undus albipunc a us and
Oguchis disease.

FUNDUS ALBIPUNCTATUS

undus albipunc a us (FA) is a disorder o


he visual pigmen regenera ion process
ha is charac erized by an abnormally prolonged recovery o normal rhodopsin levels
ollowing an in ense ligh exposure.

HISTORY
T e presen ing symp om is nonprogressive impaired nigh vision, bu given enough
ime o adap in he dark, pa ien s will achieve
a normal sensi ivi y.

EPIDEMIOLOGY
AND ETIOLO GY
T e proposed de ec in pa ien s wi h FA
appears o be an abnormal regenera ion ra e
o he visual pho orecep or pigmen s.
Au osomal recessive.

219

CLINICAL SIGNS
Visual acui y: Usually una ec ed.
Fundus: Examina ion shows a mul i ude o
yellowwhi e, iny do s in he pos erior pole
ha radia e ou oward he periphery. T e macula is almos invariably spared (Fig. 5-17).

DIFFERENTIAL DIAGNOSIS
Re ini is punc a a albescens: T is is a varian o RP in which he undus shows
yellowwhi e do s bu has narrowed vessels
and a severely reduced ERG ha does no
recover wi h dark adap a ion.
Fleck re ina o Kandori: A disorder wi h
larger pa ch-like ecks and a less severe
impairmen o nigh vision.

DIAGNOSTIC EVALUATION
Visual f elds: Normal.
Dark adap ome ry: Bo h he cone and rod
componen s o he dark adap a ion curve are
very slow in reaching he f nal hreshold.
Elec rore inography: I is impor an o
know ha unless given enough ime o dark
adap , bo h he a- and b-waves o he ERG are
severely reduced. However, wi h prolonged
dark adap a ion, ERG re urns o normal.
Elec rooculography: T ere is a slow recovery o he ligh rise wi h dark adap a ion.

PROGNOSIS AND
MANAGEMENT
T e de ec ive nigh vision is nonprogressive, and he vision is usually una ec ed.

220

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

B
FIGURE 5-17. Fundus albipunc a us. Mul iple iny yellowwhi e do s radia ing ou rom he pos erior pole
oward he undus periphery.

Congeni al S a ionary Nigh Blindness

OGUCHIS DISEASE

guchis disease is a varian o CSNB


charac erized by a nonprogressive nigh
vision impairmen ha is hough o be due o
a de ec ive pho o ransduc ion process.

EPIDEMIOLOGY
AND ETIOLO GY
T e visual pho orecep or pigmen s are
normal, and he proposed de ec is hough o
be impaired pho o ransduc ion, giving rise o
abnormal ERG f ndings.

CLINICAL SIGNS
T e re ina has a peculiar silvery me allic
sheen where re inal vessels s and ou agains
he background undus appearance. T is
unusual appearance may be seen in he en ire
re ina or may be presen only in he pos erior
pole or he periphery.
MizuoNakamura phenomenon: T e
re ina has a me allic sheen ollowing ligh
adap a ion, which disappears a er ew hours
in he dark (Fig. 5-18).

221

DIAGNOSTIC
EVALUATION
Visual f elds: Normal.
Dark adap ome ry: T ere is a normal cone
adap a ion bu a markedly delayed rod adapa ion ha reaches a normal hreshold level
over a prolonged period o ime ( rom 3 o
24 hours).
Elec rore inography: Normal-ampli ude
a-wave and reduced or absen b-wave are seen
under pho opic and sco opic condi ions. I
is o no e ha even a er he dark-adap ed
hresholds have re urned o normal, he ERG
b-wave may s ill be absen .
Elec rooculography: Normal ligh rise.

PROGNOSIS AND
MANAGEMENT
T e nigh vision de ec is nonprogressive.
T ere is no rea men available or
Oguchis disease.

222

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

FIGURE 5-18. MizuoNakamura phenomenon. Me allic sheen o he re ina a er ligh exposure (righ hand
pho ographs) has disappeared a er a ew hours o dark adap a ion ( le ). (Cour esy o Re ina Slide Collec ion,
Wills Eye Hospi al, Philadelphia, Pennsylvania, compiled by Dr. amara Vrabec and Dr. Gordon Byrnes.)

Albinism

ALBIN
A
L BI N IS
ISM
SM

lbinism is a group o condi ions ha


involves he melanin sys em o he eye or
skin, or bo h.

CLASSIFICATION
Oph halmically, wo clinical pat erns are
no ed:
rue albinism: Congeni ally subnormal
vision and nys agmus are presen .
Albinoidism: T ere is normal or minimally reduced vision and no nys agmus.
However, bo h clinical pat erns share
many clinical charac eris ics. rue albinism is
divided in o he ollowing wo ypes:
Oculocu aneous albinism: Bo h he eye
and he skin are a ec ed.
Ocular albinism: Only he eyes appear
o be a ec ed.

EPIDEMIOLOGY
AND ETIOLO GY
Oculocu aneous albinism resul s rom a
reduc ion in he amoun o primary melanin
deposi ed in each melanosome, whereas ocular albinism is caused by a reduc ion in he
o al number o melanosomes.
Gene ics
Oculocu aneous albinism: au osomal
recessive
Ocular albinism: X-linked

IMPORTANT CLINICAL SIGNS


Bo h ocular and oculocu aneous albinism
share he ollowing ocular clinical ea ures:
Reduced visual acui y in he range o
20/ 40 o 20/ 400. T e severi y o visual

223

def ci is propor ional o he degree o undus hypopigmen a ion (Fig. 5-19).


Nys agmus, ligh sensi ivi y, and a high
degree o re rac ive errors.
Iris ransillumina ion rom decreased
pigmen a ion.
Foveal aplasia or hypoplasia. In he
presence o signif can oveal hypoplasia,
nys agmus begins wi hin 2 o 3 mon hs o
li e (Fig. 5-20).
Hypopigmen ed re ina rom he periphery o he pos erior pole.
Abnormal re inogeniculos ria e projecions where many emporal nerve f bers
decussa e ra her han projec o he ipsila eral
genicula e body. T is phenomenon accoun s
or he abnormal s ereopsis in hese pa ien s.
T e emale carriers o ocular albinism may
reveal par ial iris ransillumina ion and undus hypopigmen a ion (Fig. 5-21).

ASSOCIATED CLINICAL SIGNS


Skin hypopigmen a ion is seen in
pa ien s wi h oculocu aneous albinism.
wo orms o po en ially le hal albinisms
are observed:
ChdiakHigashi syndrome:
Oculocu aneous albinism is combined
wi h ex reme suscep ibili y o in ec ion
ha can o en lead o dea h in childhood
or you h.
HermanskyPudlak syndrome:
Oculocu aneous albinism wi h a pla ele
de ec causing easy bruising and bleeding. Mos pa ien s wi h his disorder in he
Uni ed S a es are o Puer o Rican origin.

HISTOLO GY
Macromelanosomes in he eye or skin,
or bo h

224

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

Increased number o decussa ing f bers a


he chiasm

DIAGNOSTIC EVALUATION
T e ypical cons ella ion o symp oms
and signs sugges s he diagnosis. Asymme ric
visually evoked cor ical po en ials occur due
o abnormal decussa ion o he nerve f bers a
he chiasm.
T e yrosinase hair bulb es indica es
he presence or absence o he yrosinase
enzyme (i is required in he biosyn hesis
o melanin) and divides he oculocu aneous
albinism in o wo ypes, yrosinase-posi ive
and yrosinase-nega ive. yrosinase-nega ive
albinos show a comple e lack o pigmen aion in he skin, hair, and eyes, whereas

yrosinase-posi ive albinos have some


degree o pigmen a ion.
Hema ologic consul a ion is necessary i
ChdiakHigashi or HermanskyPudlak syndromes are suspec ed (Fig. 5-22).

PROGNOSIS AND
MANAGEMENT
Since all orms o albinism are inheri ed,
gene ic counseling is impor an . A majori y o
children wi h albinism are able o at end regular schools wi h some degree o assis ance,
bu only a ew see well enough o drive.
Re rac ion, in ed glasses, and visual aids
are help ul or older pa ien s.
Hema ologic consul a ion in an appropria e set ing is manda ory.

FIGURE 5-19. Albinism. Markedly hypopigmen ed undus. No e he haphazard underlying large choroidal
vessels. (Cour esy o Re ina Slide Collec ion, Wills Eye Hospi al, Philadelphia, Pennsylvania, compiled by
Dr. amara Vrabec and Dr. Gordon Byrnes.)

Albinism

225

FIGURE 5-20. Albinism, foveal hypoplasia. Color undus pho ograph concen ra ing on he oveal region
o a pa ien wi h albinism. No e a comple e absence o oveal archi ec ure and oveal ref ex oveal hypoplasia
( box) . (Cour esy o Re ina Slide Collec ion, Wills Eye Hospi al, Philadelphia, Pennsylvania, compiled by
Dr. amara Vrabec and Dr. Gordon Byrnes.)

226

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

B
FIGURE 5-21. Albinism, female carrier. Par ially hypopigmen ed undus in a emale carrier o ocular
albinism. (Cour esy o Re ina Slide Collec ion, Wills Eye Hospi al, Philadelphia, Pennsylvania, compiled by
Dr. amara Vrabec and Dr. Gordon Byrnes.)

Albinism

227

FIGURE 5-22. Oculocu aneous albinism, HermanskyPudlak Syndrome. Purpuric pa ches on he cheeks,
orehead, and le upper lid o a young boy wi h oculocu aneous albinism and HermanskyPudlak syndrome.
(Cour esy o Re ina Slide Collec ion, Wills Eye Hospi al, Philadelphia, Pennsylvania, compiled by Dr. amara Vrabec
and Dr. Gordon Byrnes.)

228

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

RE
R
E IN
I N I IS
S PI
PIGMEN
I G M E N OSA
O SA
A

P is a group o heredi ary disorders associa ed wi h a primary abnormali y o he


pho orecep orRPE complex, and is characerized subjec ively by nigh blindness and a
loss o peripheral vision, and objec ively by
a grossly reduced or ex inguished ull-f eld
ERG. However, he heredi ary basis can be
es ablished in only 50% o cases.

EPIDEMIOLOGY
AND ETIOLO GY
Onse : Variable and depends on he inheri ance pat ern.
Gene ics: T e ollowing modes o inheriance have been described:
Sporadic: T ere is no amily his ory
o RP. T ese are he mos common cases.
Some o hese cases are au osomal recessive, and o hers may represen au osomaldominan mu a ions.
Au osomal dominan : T e nex mos
common mode o inheri ance and has he
bes prognosis.
Au osomal recessive.
X-linked recessive: Leas common
group wi h wors prognosis.

HISTORY
Pa ien s wi h ypical RP presen wi h a
his ory o nigh blindness or nyc alopia (a
comple e or par ially reduced ra e o visual
adap a ion a nigh or in dim illumina ion).
Pa ien s may also have di cul y wi h peripheral vision in dim ligh .
T e di cul y wi h nigh vision may begin
in early childhood, or pa ien s may no ice
i in he second or hird decade o li e. By
he age o 30 years, over 75% o pa ien s are
symp oma ic.

CLINICAL SIGNS
T e classic clinical riad o RP includes
(Fig. 5-23):
Re inal bone-spicule pigmen a ion
Ar eriolar at enua ion
Waxy op ic disc pallor (Fig. 5-24)
Addi ionally, vi reous debris is requen ly
encoun ered.
Important Clinical Signs
Nigh blindness: T e mos common presen ing clinical symp om. Peripheral vision
problems are ini ially no iced only in he
dim ligh , bu la er hese problems are no ed
under all condi ions. Even ually, only a small
zone o cen ral vision remains.
Visual acui y: T e cen ral vision may be
preserved or many years in he au osomaldominan orm o RP. An early loss o cen ral
vision is o en observed in he X-linked or
au osomal-recessive orms. Addi ionally,
ca arac , cys oid macular edema, and sur ace
wrinkling o he in ernal limi ing membrane
may con ribu e o early vision loss.
Fundus f ndings: Fundus f ndings may
di er according o he s age o he disease.
Very early: Ar eriolar narrowing; f ne
dus -like in rare inal pigmen a ion.
La er ea ures: Perivascular bonespicule pigmen clumping. Pigmen ary
changes begin in he midre inal periphery
and hen ex end an eriorly as well as pos eriorly, giving rise o a ring sco oma. Waxy
pallor o he op ic disc is he leas reliable
sign o he RP riad.
Advanced ea ures: Unmasking o he
large choroidal vessels, prominen ar eriolar at enua ion, and marked op ic disc
pallor.
Macula: Macular involvemen may occur
in he ollowing ways:

Re ini is Pigmen osa

Cys oid macular edema (may respond


o sys emic ace azolamide)
Sur ace wrinkling
A rophic changes
Associated Ocular Features
Op ic nerve head drusen
Open-angle glaucoma (in 3% o pa ien s
wi h RP)
Pos erior subcapsular ca arac (common
in all orms o RP)
Kera oconus
Myopia ( requen ly encoun ered)

DIAGNOSTIC EVALUATION
A cons ella ion o charac eris ic signs and
symp oms helps es ablish he diagnosis.
Visual f elds: Ini ially, here is a ull or parial ring sco oma in he midperiphery, which
ex ends an eriorly as well as pos eriorly, leaving only a cen ral island o vision in he la e
s ages.
Dark adap ome ry: An eleva ion o he rod
as well as he cone segmen o he dark adapa ion curve occurs. On he basis o he dark
adap ome ry resul s, au osomal-dominan RP
can be divided in o wo ypes:
ype I RP: Early-onse nyc alopia wi h
an early di use loss o he rod sensi ivi y
rela ive o cone sensi ivi y
ype II RP: Adul -onse nyc alopia
wi h an equal loss o he rod and cone
sensi ivi y
Elec rore inography: T is may be signif can ly subnormal even when he undus
shows minimal changes. Severely reduced or
almos ex inguished sco opic ERG responses
are observed, whereas he pho opic ERG
is rela ively una ec ed. T e cone b-wave
implici imes, as elici ed by icker s imuli,
are almos always prolonged in all orms o

229

elec rore inography. T e b-wave implici


ime on he ERG may be prolonged in
pa ien s wi h predominan loss o rods ra her
han cones. Recen ly, dis inc ive ERG pa erns in he ype I and he ype II au osomaldominan orms o RP have been observed.
T e rod ERG is more severely a ec ed han
he cone ERG in ype I RP, whereas rod and
cone ERGs are equally abnormal in ype
II RP.
Elec rooculography: Almos invariably
reduced.
A ypical RP
Re ini is punc a a albescens: Scat ered
whi e do s are loca ed mos ly be ween he
pos erior pole and he equa or.
Sec or RP: Only one or wo quadran s
o he undus are involved (Fig. 5-25).
Pericen ric RP: Pigmen ary changes are
conf ned o he area around he pos erior
pole.
RP sine pigmen o: Pigmen ary changes
in he undus are ei her minimal or absen .
RP wi h exuda ive vasculopa hy: Coa s
disease-like appearance in he undus.

PROGNOSIS AND
MANAGEMENT
Abou one quar er o pa ien s main ain
good vision and are able o read hroughou
heir lives. T e au osomal-dominan orm
o he disease has he bes prognosis, and
he X-linked orm has he wors
prognosis.
Only a ew pa ien s younger han 20 years
o age have a visual acui y o 20/ 400 or less.
By he age o 50 years, however, a signif can
propor ion o pa ien s will have a visual acui y o approxima ely 20/ 400.
Elec rore inography is help ul in iden i ying he emale carriers o X-linked RP (who

230

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

may have a normal undus), which may have


implica ions or gene ic counseling.
Appropria e inves iga ions should be perormed o rule ou a ypical orms o RP ha
may have an associa ed rea able sys emic
condi ion. Explain o pa ien s ha no all
people wi h RP go comple ely blind.
Yearly ollow-up is recommended o de ec
a precipi ous all in vision ha may raise a
possibili y o a rea able cause, such as cys oid
macular edema or ca arac . Cys oid macular
edema associa ed wi h RP responds avorably
o oral ace azolamide, which is ini ially ried

in a dose o 125 mg wice a day or 2 mon hs


o conf rm i s benef cial e ec . I e ec ive,
ace azolamide may need o be con inued or
many mon hs in some pa ien s.
Serial Goldmann perime ry should be
per ormed a regular in ervals o assess visual
f eld changes.
T e role o oral vi amin A herapy in
slowing he ra e o progression o ypical RP
remains con roversial.
A varie y o low-vision aids may be
help ul.

FIGURE 5-23. Re ini is pigmen osa (RP). T e classic clinical riad o waxy op ic disc pallor, ar eriolar
at enua ion, and bone spicule pigmen a ion (inse ) in a pa ien wi h RP. (Cour esy o Re ina Slide Collec ion,
Wills Eye Hospi al, Philadelphia, Pennsylvania, compiled by Dr. amara Vrabec and Dr. Gordon Byrnes.)

Re ini is Pigmen osa

231

B
FIGURE 5-24. RP. Ar eriolar at enua ion (inse , A) , op ic disc pallor (arrow, B) , and pigmen ary changes in
he undus are he charac eris ic ndings in pa ien s wi h RP. Visual acui y was reduced o nger coun ing vision
due o oveal changes. (Cour esy o Re ina Slide Collec ion, Wills Eye Hospi al, Philadelphia, Pennsylvania,
compiled by Dr. amara Vrabec and Dr. Gordon Byrnes.)

232

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

FIGURE 5-25. RP, sec or varian . Equa or plus color undus pho ograph showing in erior sec orial re inal
pigmen ary changes. (Cour esy o Re ina Slide Collec ion, Wills Eye Hospi al, Philadelphia, Pennsylvania,
compiled by Dr. amara Vrabec and Dr. Gordon Byrnes.)

Sys emicDiseases Associa ed wi h Re ini is Pigmen osa

SYS
S
YS E
EMIC
MIC DI
DISEASES
I SE
E ASES
ASSO
A
SSO
OC
CIA
IA
A ED
DW
WII H
RE
R
E IN
I N I IIS
S PI
PIGMEN
I G ME
E N OSA
O SA
A
USHERS SYNDROME

shers syndrome is def ned as congeni al


or progressive hearing loss associa ed
wi h RP and is he mos common syndrome
associa ed wi h RP. Approxima ely 4% o
children at ending schools or he dea have
RP, and 50% o blinddea individuals have
Ushers syndrome.

Pigmen ary re inopa hy: I is progressive


and develops be ore puber y.
Sys emic ea ures: Ushers syndrome is
divided in o our sub ypes, and ypes I and II
cons i u e he majori y o cases.
ype I: Pro ound congeni al dea ness,
abnormal ves ibular unc ions, and earlyonse RP
ype II: Par ial dea ness, in ac ves ibular unc ions, and a milder orm o RP

BASSENKORNZWEIG
SYNDROME
( ABETALIPOPROTEINEMIA)

his disorder is hough o be caused by an


inabili y o he body o syn hesize apolipopro ein B, which helps in he absorp ion o
a s in he small in es ine.
Pigmen ary re inopa hy: I develops a he
end o he f rs decade o li e. P osis and ocular mo ili y dis urbances may also be seen.
Sys emic ea ures: Spinocerebellar a axia,
acan hocy osis, and abe alipopro einemia
are no ed. Fa malabsorp ion and associa ed
def ciency o a -soluble vi amins, par icularly A and E, is presen , and jejunal biopsy is
diagnos ic.

233

rea men : Supplemen a ion o vi amins


A and E may be benef cial. Oral supplemena ion o vi amin A o reverse he psychophysical and elec rophysiologic abnormali ies
remains con roversial.

REFSUMS DISEASE
( HEREDOPATHIA ATACTICA
POLYNEURITIFORMIS)

e sums disease is an au osomal-recessive


disorder caused by a me abolic abnormali y ha resul s in a deposi ion o phy anic
acid in many body issues, including he eyes.
Pigmen ary re inopa hy: Nyc alopia is
almos always presen . Fundus pigmen a ion
is generally o a sal -and-pepper ra her han
bone-spicule ype.
Sys emic ea ures: Hyper rophic peripheral neuropa hy, cerebellar a axia, dea ness,
ich hyosis, cardiac arrhy hmias, and eleva ed
cerebrospinal uid pro ein.
rea men : Normaliza ion o he
eleva ed serum phy anic acid levels by a
low phy anic acid die may improve re inal
unc ion, and s op or slow he progression
o disease.

CO CKAYNES SYNDROME
Pigmen ary re inopa hy: Sal -and-pepper
ype wi h ar eriolar at enua ion and op ic
nerve pallor.
Sys emic ea ures: Childhood dwarf sm
wi h cachec ic and prema urely aged appearance. A ec ed children have a small head wi h
charac eris ic bird-like acies, and dispropor iona ely large hands and ee . Dea ness,
pho oderma i is, nys agmus, a axia, and progressive men al re arda ion are associa ed eaures. Dea h may occur in he hird or our h
decade o li e.

234

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

KEARNSSAYRE SYNDROME

MUCOPOLYSACCHARIDOSES

his syndrome is a mi ochondrial myopahy in which an increased number o


dis or ed mi ochondria are accumula ed in
he skele al muscles (including he ex raocular muscles), RPE, and hear . His ologically,
a ec ed muscles show ragged-red f bers,
caused by he accumula ion o mi ochondria
benea h he plasma membrane and be ween
myof brils.
Pigmen ary re inopa hy: Variable appearance. Di use re inal pigmen epi helial mo ling may be observed.
Sys emic ea ures: Combina ion o chronic
progressive ex ernal oph halmoplegia (mos
common f nding), pigmen ary re inopa hy,
and comple e hear block (may cause dea h).
T is condi ion usually becomes mani es
be ore he age o 20 years.

BARDETBIEDL
SYNDROME
Pigmen ary re inopa hy: Bulls-eye maculopa hy occurs in mos cases. A ew cases
are similar o ypical RP wi h bone-spicule
pigmen a ion.
Sys emic ea ures: Men al handicap, polydac yly, obesi y, and hypogeni alism; renal
abnormali ies (in mos cases).

LAURENCEMO ON
SYNDROME
Re inopa hy: Ei her ypical RP ype or
choroidal a rophy.
Sys emic ea ures: Spas ic paraplegia, menal handicap, and hypogeni alism.

his group o me abolic disorders is


caused by a def ciency o lysosomal
enzymes involved in he degrada ion o many
mucopolysaccharides, such as derma an sula e, heparan sul a e, and kera an sul a e. An
abnormal deposi ion o he nondegraded
mucopolysaccharides leads o mul iple organ
sys em dys unc ion.
Gene ics: Au osomal recessive, excep
Hun ers disease, which is X-linked recessive.
Ocular ea ures: Re inal pigmen ary
degenera ion ound in Hurlers, Hun ers,
and Sanf lippos diseases; corneal s romal
inf l ra ion; op ic nerve head swelling; op ic
a rophy; and glaucoma (rare).
Sys emic ea ures: Facial coarseness,
skele al anomalies, and hear disease.

NEURONAL CEROID
LIPOFUSCINOSIS
( BATTEN DISEASE)

his group o disorders is charac erized


by an accumula ion o au o uorescen
lipopigmen s in he neurons as well as in nonneural issues. Four ypes are di eren ia ed, as
ollows:
In an ile ype (HagbergSan avuori)
Generalized re inal degenera ion
Brownish discolora ion o he macula
Early visual loss
Op ic a rophy
Men al re arda ion and mo or abnormali ies be ween he ages o 1 and
1 years
La e in an ile ype ( JanskyBielschowsky)

Sys emic Diseases Associa ed wi h Re ini is Pigmen osa

Generalized re inal degenera ion and


op ic a rophy
Seizures and psychomo or problems
wi h an onse be ween 2 and 4 years
o age
Juvenile ype (SpielmeyerVog )
Mos common
Bulls-eye maculopa hy wi h evenual developmen o RP-like clinical picure: May need o be di eren ia ed rom
S argard s disease
Reduced vision
Progressive men al de eriora ion
Seizures (occasionally)
Average age o dea h: 17 years
Adul -onse (KUFS)
No ocular abnormali ies
Benign; no a al

235

FRIEDREICHS ATAXIA

riedreichs a axia is an au osomalrecessive inheri ed disorder caused by a


dis urbance o pyruva e me abolism. Onse o
symp oms is no ed be ween 10 and 20 years
o age.
Ocular ea ures
Pigmen ary re inopa hy
Ves ibular nys agmus
Op ic a rophy
Ver ical gaze paresis
Sys emic ea ures
Cerebellar a axia
Absence o endon re exes
Scoliosis
Cardiomyopa hy: O en he cause o
dea h in he hird o our h decade o li e

236

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

CARCIN
C
ARC
CINO M
MA-ASSO
A-A
ASSO
O CI
CIA
I A ED
D
RE
R
E IN
N O PA
PA H Y S
SYN
YN
N DRO
D RO
O ME
ME

arcinoma-associa ed re inopa hy (CAR)


syndrome, also known as paraneoplas ic
re inopa hy, is a visual paraneoplas ic disorder
in which au oan ibodies agains umor an igen
cross-reac wi h re inal pro eins, resul ing in
rod and cone pho orecep or dys unc ion.

Nyc alopia
Prolonged dark adap a ion
Ring sco oma
Fundus ea ures
Early s ages may be normal (Fig. 5-26)
La e f nding: Narrow re inal ar erioles
Re inal pigmen epi helial mot ling
Op ic nerve pallor

EPIDEMIOLOGY
AND ETIOLO GY

ASSO CIATED
CLINICAL FEATURES

Age a presen a ion is variable.


T ere is no gender pre erence.
Associa ed malignancies include:
Small cell carcinoma o he lung (mos
common)
Gynecologic, breas , endocrine, or
o her visceral malignancies
In CAR syndrome, au oan ibodies crossreac wi h he pro ein recoverin, loca ed
wi hin he pho orecep ors.

Sys emic ea ures o he underlying malignancy may or may no be presen .

HISTORY
T e ypical presen a ion is severe, progressive, bila eral visual loss over a period o
mon hs, wi h rela ively unremarkable undus.
Visual symp oms may precede diagnosis o
he underlying malignancy.

CLINICAL SIGNS
Cone dys unc ion: As evidenced by:
Decreased visual acui y
Pho osensi ivi y
Reduced color vision
Cen ral sco oma
Rod dys unc ion: As evidenced by:

DIFFERENTIAL DIAGNOSIS
Decreased vision rom re inal cause and
normal-appearing undus
S argard s disease
Cone dys rophy
wig branch re inal vein occlusion
wig branch re inal ar ery occlusion
oxic re inopa hy
Reper used cen ral re inal ar ery occlusion
Age, amily and medica ion his ory, bila erali y, uorescein angiography, and he elecrophysiologic es s help o di eren ia e CAR
syndrome rom he preceding disorders.

DIAGNOSTIC EVALUATION
ypical se o symp oms and signs
Color vision: Reduced
Visual f elds: ypically, ring sco oma
Dark adap ome ry: Prolonged dark
adap a ion
Elec rore inography: Reduced ampli udes
o bo h rod and cone responses

Carcinoma-Associa ed Re inopa hy Syndrome

Serum an i-recoverin an ibodies


Sys emic oncologic evalua ion

PROGNOSIS AND
MANAGEMENT
I pho orecep ors are su cien ly damaged,
visual unc ions are usually permanen ly al ered.

237

Various rea men measures have been


ried, bu heir role in improving he visual
prognosis remains o be proven. T ese measures include rea men o he underlying
malignancy, s eroids, plasmapheresis, and
in ravenous immunoglobulins.

238

5 RETINAL DEGENERATIO NS AND DYSTRO PHIES

B
FIGURE 5-26. Carcinoma associa ed re inopa hy (CAR) syndrome. A. Normal undus bu decreased vision.
B. Severe and generalized visual eld depression.
( continued)

Carcinoma-Associa ed Re inopa hy Syndrome

239

D
FIGURE 5-26. ( Continued) Carcinoma associa ed re inopa hy (CAR) syndrome. C. Near comple ely
ex inguished elec rore inogram. D. Mass lesion in he righ lower lobe o he lung diagnosed as small cell
carcinoma causing CAR syndrome. (Cour esy o Dr. William asman and he Re ina Slide Collec ion, Wills
Eye Hospi al, Philadelphia, Pennsylvania, compiled by Dr. amara and Dr. Gordon Byrnes.)

C H AP T ER

e inal and Choroidal umors


Franco M. Recchia

AS
A
S RO
R O C Y IC
I
HA
AMAR
M AR O M
MA
A

s rocy ic hamar oma is a congeni al,


minimally progressive, benign umor
arising rom he glial cells o he re ina and
usually loca ed around he op ic disc. I is o en
associa ed wi h he sys emic condi ion uberous sclerosis (Bournevilles disease), occasionally wi h neurof broma osis, bu also occurs
sporadically in o herwise normal individuals.

EPIDEMIOLOGY
AND ETIOLO GY
Mos as rocy ic hamar omas occur congeni ally in associa ion wi h uberous sclerosis
( S), a amilial phakoma osis charac erized
by he riad o seizures, men al re arda ion, and
skin lesions. S has an es ima ed incidence
o 1 in 15,000 o 1 in 100,000 and exhibi s
au osomal-dominan inheri ance. oughly hal
o he pa ien s wi h S have as rocy ic hamar omas. Causa ive genes have been iden if ed
on chromosomes 9q34 and 16p13.
240

HISTORY
Pa ien s wi h as rocy ic hamar omas are
usually asymp oma ic. Visual f eld es ing may
reveal a sco oma in he area corresponding o
he umor.

IMPORTANT
CLINICAL SIGNS
T e appearance o a re inal as rocy ic hamar oma is principally o wo ypes:
Smaller, noncalcif ed, a , smoo h
umor ha appears as mild hickening o
he nerve f ber layer
Larger, calcif ed, whi ish-yellow nodular
mass (mulberry lesion)
Aspec s o bo h may be seen in he
same lesion, as i is likely ha calcif ca ion
progresses slowly over many years
(Fig. 6-1).
Every pa ien wi h an as rocy ic hamaroma o he re ina or op ic nerve must be
evalua ed or S. ypical mani es a ions o
S include:

Astrocytic Hamartoma

Skin lesions ( 95% incidence)


Hypomelano ic macules: Oval (ashlea ), polygonal, or punc a e (conet i) in shape. Usually presen a bir h
and o en he f rs presen ing sign.
eddish-brown papular rash over
he ace ( ermed adenoma sebaceum,
bu ac ually angiof bromas), o en misaken or acne. arely presen be ore a
ew years o age.
Seizures ( 90% incidence): Myoclonic
spasms las ing 10 o 50 seconds; end o
become grand mal ype la er in li e.
Men al re arda ion ( 60% incidence)

ASSO CIATED
CLINICAL SIGNS
Ocular: Occasionally, may produce vi reous hemorrhage, vi reous seeding, subre inal
hemorrhage, or re inal de achmen .
Sys emic (addi ional mani es a ions o
S): Ungual f bromas, pleural cys s (leading o spon aneous pneumo horax), renal
angiomyolipoma, cardiac rhabdomyoma, and
hamar omas o he liver, hyroid, pancreas, or
es is may occur.

DIFFERENTIAL DIAGNOSIS
e inoblas oma ( b)
Myelina ed nerve f bers

241

e inal granuloma
Drusen o he op ic disc
Papilli is

DIAGNOSTIC EVALUATION
Fluorescein angiography: T e umor
appears rela ively hypo uorescen in he
ar erial phase. Superf cial f ne blood vessels
are seen during he venous phase. T e umor
s ains in ensely and homogeneously in he
la e phases.
B-scan Ul rasonography: A larger, calcif ed
lesion o en appears as a discre e, oval, solid
mass wi h a sharp an erior border.
Neuroimaging: Subependymal hamar omas, charac eris ic o S, may be seen wi h
compu ed omography (C ) or magne ic
resonance imaging (M I).

PROGNOSIS AND
MANAGEMENT
T e vas majori y o re inal as rocy ic
hamar omas are asymp oma ic and do no
require rea men .
Associa ed re inal de achmen can
o en be rea ed wi h demarca ing laser
pho ocoagula ion.
Pa ien s and amily members should
be examined regularly or mani es a ions
o S.

242

6 RETINAL AND CHO RO IDAL TUMORS

FIGURE 6-1. Astrocytic hamartoma. A peripapillary astrocytic hamartoma can be seen with classic mulberry
calcif cation overlying an underlying smooth tumor. Patients and amily members should be examined or
tuberous sclerosis. Courtesy o Drs. Jerry and Carol Shields, Oncology Service, Wills Eye Hospital, Philadelphia,
Pennsylvania.

Retinoblastoma

RE
E IN
N O BLAS
BLAS
S OM
MA
A

b is he mos common in raocular malignancy o children. I may be amilial bu


mos o en is sporadic in occurrence. T e
umor arises rom cells in he developing re ina
o one or bo h eyes as a resul o mu a ions in
he b) umor-suppressor gene. b presen s
mos o en as a whi e in raocular mass wi h
propensi y or direc ex ension in o he brain
and almos cer ain mor ali y i un rea ed.

EPIDEMIOLOGY
AND ETIOLO GY
b occurs in approxima ely 1 in 15,000
live bir hs. Mos children are diagnosed a a
mean o 18 mon hs.
No predilec ion or race or gender has
been shown.
oughly wo- hirds o he cases are unila eral, and one- hird is bila eral. Unila eral cases
are more likely o be diagnosed a an older
age (mean o 24 mon hs) and are mos o en
non amilial (sporadic). Bila eral cases are
diagnosed a a mean o 12 mon hs, are usually
amilial, and are nearly always mul i ocal.
b resul s rom mu a ions or loss o bo h
alleles o he b gene, loca ed on chromosome 13q14. T e b gene produc appears
o unc ion as regula or o cellular proli eraion hrough inhibi ory e ec s on gene ranscrip ion a specif c s ages o he cell cycle.
T e iming o allelic inac iva ion de ermines
whe her he mu a ion is germinal (i.e., heriable by o spring o he a ec ed child) or
somatic (nonheri able). In germinal cases, a
mu an allele is presen be ore er iliza ion,
mos commonly as a resul o inheri ance
rom ei her paren . In soma ic cases,
bo h alleles are presen and ac ive a er iliza ion, and spon aneous mu a ions in each
allele arise subsequen ly.

243

HISTORY
A whi e pupillary re ex (leukokoria;
Fig. 6-2) and s rabismus are he wo mos
common f ndings repor ed by paren s. In
ewer han 10% o cases is a amily his ory
known a he ime o diagnosis.

IMPORTANT
CLINICAL SIGNS
Mos pa ien s presen wi h leukokoria and
s rabismus. Small re inoblas omas appear as
a , ranslucen , whi e re inal lesions
(Fig. 6-3A). Wi h grow h, he umor appears
more solid, eleva ed, and chalky-whi e, wi h
overlying dila ed or uous blood vessels.
T ree grow h pat erns have been
described.
Endophy ic: T e umor grows rom he
re ina inward o seed he vi reous cavi y or
an erior chamber.
Exophy ic: T e umor grows rom he
re ina ou ward o occupy he subre inal
space, o en causing an exuda ive re inal
de achmen (Fig. 6-3B).
Di use inf l ra ing: T e leas common orm; his is charac erized by shallow spread o umor along he en ire
re ina and in o he vi reous and an erior
chamber.
O her impor an f ndings are iris neovasculariza ion, which occurs in nearly one-f h
o all cases, and pseudohypopyon (set ling
o umor and in amma ory cells in he an erior chamber).

ASSO CIATED
CLINICAL SIGNS
Clear lens
He erochromia iridis

244

6 RETINAL AND CHO RO IDAL TUMORS

Spon aneous hyphema


Ex rascleral ex ension
Pinealoblas oma ( rila eral
re inoblas oma)

DIFFERENTIAL DIAGNOSIS
Leukokoria
Coa s disease
Persis en e al vascula ure syndrome
( ormerly ermed persis en hyperplas ic
primary vi reous, or PHPV)
oxocariasis
e inopa hy o prema uri y
Familial exuda ive vi reore inopa hy
e inal as rocy oma
Ca arac
Norries disease
Incon inen ia pigmen i
Vi reous seeding
In raocular in amma ion
Endoph halmi is
Vi reous hemorrhage
Leukemic inf l ra ion

DIAGNOSTIC EVALUATION
De ailed sys emic evalua ion and examinaion is required, as well as amily his ory and
ocular examina ion o paren s, and comple e
examina ion o bo h eyes (o en requiring
anes hesia or comple e visualiza ion o he
undi wi h scleral depression).
Ul rasonography: An eleva ed, rounded,
in raocular mass is seen, wi h high in ernal
re ec ivi y (calcif ca ion) and shadowing o
sclera and so issue pos erior o he lesion.
C is help ul in de ec ing in raocular
calcif ca ion (presen in roughly 80% o

re inoblas omas), assessing ex raocular ex ension, and iden i ying he presence o pineal
umors.
Fluorescein angiography reveals early
ar erial f lling o he vessel eeding he umor,
leakage o dye rom in rinsic umor vessels,
and la e hyper uorescence o he umor.

PROGNOSIS
Spon aneous regression is rare and leads
o ph hisis bulbi. ypically, i un rea ed, children die wi hin 2 years o diagnosis. Early
de ec ion, coupled wi h improvemen s and
promp ness o rea men , has reduced he
mor ali y ra e o less han 10%. T e main
de erminan or mor ali y is op ic nerve invasion. For his reason, i is impera ive o ob ain
as long a sec ion o op ic nerve as possible
during enuclea ion.
Prognos ic ac ors or ailure o preserve
vision or o preserve he eye are larger
umor size, vi reous seeding, and macular
involvemen .
Children wi h germinal b have an
increased risk o developing o her primary
malignancies over he course o heir li eimes. T ese umors include principally
in racranial b, os eogenic sarcoma o he
long bones, and sarcoma o so issues. T e
risk is es ima ed o be 20% wi hin 25 years o
rea men .

MANAGEMENT
Children diagnosed wi h b should
undergo evalua ion or sys emic involvemen ,
including comple e blood coun , lumbar
punc ure, neuroimaging, and bone marrow
biopsy. Gene ic es ing o he child and amily
members should be per ormed.
Individual rea men varies according
o number, size, and loca ion o umors, as

Retinoblastoma

well as sys emic s a us. T erapeu ic op ions


include cryo herapy, laser pho ocoagula ion,
enuclea ion, ex ernal-beam irradia ion, plaque
radio herapy, chemo herapy, hermo herapy,
and chemo hermo herapy.
Chemoreduc ion prior o def ni ive ocular
rea men may be help ul in reducing he
need or enuclea ion and reducing he ra e o
occurrence o pinealoblas oma.

245

In amilial cases, gene ic counseling provides paren s wi h impor an in orma ion


regarding he probabili y o ur her occurrences. Pa ien s wi h germinal b mus be
warned o he possibili y o ransmission o
heir o spring.

FIGURE 6-2. Retinoblastoma. T is young boy has leukokoria and strabismus, the most common clinical
presentation o retinoblastoma. Courtesy o Drs. Jerry and Carol Shields, Oncology Service, Wills Eye Hospital,
Philadelphia, Pennsylvania.

246

6 RETINAL AND CHO RO IDAL TUMORS

B
FIGURE 6-3. Retinoblastoma. A. Focal retinoblastoma presenting as a macular intraretinal amelanotic tumor.
B. Massive exophytic retinoblastoma with tumor behind the clear lens. Courtesy o Drs. Jerry and Carol Shields,
Oncology Service, Wills Eye Hospital, Philadelphia, Pennsylvania.

Retinal Capillary Hemangioma

RE INAL
IN
N AL C
CAPILLARY
APII LL
L ARY
Y
H EM
EMAN
M AN G
GIO
IO
O MA
MA

riginally ermed angiomatosis retinae,


re inal capillary hemangioma is a benign
vascular umor o variable size loca ed in he
re ina or adjacen o he op ic disc. Usually
diagnosed by he our h decade, i may be
he f rs mani es a ion o von HippelLindau
(VHL) disease, a amilial cancer syndrome wi h
which i is commonly associa ed.

EPIDEMIOLOGY
AND ETIOLO GY
T is umor may occur in a sporadic or
heredi ary ashion. e inal capillary hemangioma occurs in up o 80% o pa ien s wi h
VHL syndrome and is o en he f rs mani esa ion, diagnosed a a mean age o 25 years.
T e VHL syndrome has an es ima ed
prevalence o 1 in 40,000 and is possibly
more common in whi es. I exhibi s dominan
inheri ance and has variable pheno ypes
wi hin amilies.
Mean survival o pa ien s wi h VHL is
41 years o age.
VHL syndrome is caused by mu a ions
in he VHL gene, a umor-suppressor gene
loca ed on chromosome 3p25. T e VHL gene
produc regula es he expression and unc ion
o hypoxia-responsive angiogenic ac ors
[e.g., vascular endo helial grow h ac or
(VEGF)].

HISTORY
Capillary hemangiomas may be diagnosed
inciden ally or in pa ien s suspec ed o having VHL syndrome. T e umors may be
asymp oma ic or may produce painless visual
impairmen rom vi reous hemorrhage, macular pucker, or re inal de achmen .

247

IMPORTANT
CLINICAL SIGNS
e inal capillary hemangioma: Usually
loca ed peripherally and well circumscribed.
Ini ially appears as a yellow-red do wi h a
minimally dila ed eeding ar eriole or draining venule (Fig. 6-4). Wi h grow h, appears
orange-red wi h more prominen ly dila ed
a eren and e eren vessels. May have associa ed exuda ion, subre inal uid, or prere inal
f brosis.
Jux apapillary capillary hemangioma:
Orange-red in color, bu less well circumscribed. I o en lacks eeder vessels.
VHL syndrome: Hemangio-blas omas o
he cerebellum and spinal cord, renal cell carcinoma, or pheochromocy oma.

ASSO CIATED
CLINICAL SIGNS
e inal de achmen and, rarely, neovascular glaucoma may complica e capillary
hemangioma.
Hemangiomas o he adrenal glands, lungs,
and liver, and mul iple cys s o he pancreas
and kidneys have been observed in some
pa ien s wi h VHL syndrome.

DIFFERENTIAL DIAGNOSIS
e inal capillary hemangioma
O her umors: e inal cavernous hemangioma, racemose hemangioma, choroidal melanoma, and as rocy ic hamar oma
Vascular diseases: Coa s disease, re inal
ar erial macroaneurysm, amilial exuda ive
vi reore inopa hy, and exuda ive macular
degenera ion
N.B.: A dis inc ion has been made
be ween he re inal angioma o VHL

248

6 RETINAL AND CHO RO IDAL TUMORS

syndrome and an acquired, nonheredi ary


en i y occurring in older pa ien s and
ermed vasoproliferative retinal tumor. T is
lat er condi ion is usually loca ed in he
in ero emporal peripheral undus and lacks
markedly dila ed eeder vessels.
Op ic disc hemangioma
Papilli is
Op ic disc granuloma
Op ic disc glioma

DIAGNOSTIC EVALUATION
Ocular: Fluorescein angiography is he
mos help ul ancillary s udy. In he ar erial
phase, a prominen , dila ed eeder ar eriole
may be seen. T e umor appears hyper uorescen early and remains so hrough he
la e phases, some imes leaking dye in o he
vi reous. Ul rasonography may be help ul in
diagnosing lesions o grea er han 1 mm and
demons ra es acous ic solidi y hroughou
he lesion.
Sys emic: All pa ien s wi h re inal capillary hemangioma, as well as rela ives, should
be evalua ed or VHL syndrome. Gene ic
es ing or mu a ions in he VHL gene is
available.

PROGNOSIS AND
MANAGEMENT
T e na ural his ory is variable, wi h bo h
progressive enlargemen and spon aneous
regression having been repor ed. Visual prognosis is highly variable and depends on umor
loca ion, size, and associa ed complica ions,
especially hose ha involve he macula.
In pa ien s wi h VHL syndrome, risk o
developing associa ed umors increases wi h
age. Morbidi y and mor ali y are rela ed o
hese associa ed umors. Median survival is
less han 50 years, wi h renal carcinoma as he
leading cause o dea h.
rea men is recommended or umors wi h
documen ed grow h or e ec s on visual uncion. T e goal o rea men is o induce resoluion o exuda ion or subre inal uid. Laser
pho ocoagula ion is reserved or smaller umors
(less han 2 mm in diame er). Larger umors
are bes rea ed wi h cryo herapy or plaque
radio herapy. Vi reore inal surgery, and, rarely,
enuclea ion may be necessary or pa ien s wi h
advanced or uncon rollable pa hology.
Pa ien s wi h VHL syndrome and heir
rela ives should be examined regularly or
li e. T is includes regular es ing or urine ca echolamines, C and ul rasonography o he
kidneys, and M I o he brain.

Retinal Capillary Hemangioma

249

FIGURE 6-4. Retinal capillar y hemangioma. Note the dilated eeding retinal arteriole (arrow) and the
segmented draining retinal vein ( arrowhead) with associated macular edema, premacular f brosis, and lipid
exudation. T ese lesions may be the f rst mani estation o von HippelLindau disease. Courtesy o Drs. Jerry
and Carol Shields, Oncology Service, Wills Eye Hospital, Philadelphia, Pennsylvania.

250

6 RETINAL AND CHO RO IDAL TUMORS

RE INAL
I NA
AL CAVERN
C AVE RN
N O US
H EM
EMAN
M AN
NG
GIO
IO
O MA
MA

e inal cavernous hemangioma is a benign,


rarely progressive, vascular umor o he
re ina or op ic disc charac erized by a collecion o venous aneurysms. I may be associa ed
wi h similar vascular anomalies o he skin and
cen ral nervous sys em (CNS).

EPIDEMIOLOGY
AND ETIOLO GY
umor occurrence is mos ly sporadic.
Small pedigrees o pa ien s wi h cavernous
hemangioma as par o a dominan ly inheri ed oculoneurocu aneous syndrome have
been repor ed.

HISTORY
Pa ien s are usually asymp oma ic, bu he
umor may produce painless visual loss.
A heredi ary componen may be no ed.

IMPORTANT
CLINICAL SIGNS
A clus er o dark-red, in rare inal aneurysms is loca ed along a re inal venule,
appearing as a clus er o grapes arising
rom he inner re inal sur ace (Fig. 6-5).
O en here is overlying gray f broglial issue.
Usually he umor does not have associa ed
exuda ion or a eeding ar eriole.

ASSO CIATED
CLINICAL SIGNS
Vi reous hemorrhage occurs in up o 10%
o cases.

T ere may also be cu aneous vascular


mal orma ions.
Cavernous hemangiomas o he midbrain
or cerebellum may produce seizures or subarachnoid hemorrhage.

DIFFERENTIAL DIAGNOSIS
Capillary hemangioma
Acquired vasoproli era ive umor
acemose hemangioma
Coa s disease

DIAGNOSTIC EVALUATION
Fluorescein angiography produces a ypical pat ern: T e lesion is hypo uorescen
in he early ar erial phase and exhibi s slow
hyper uorescence during he la e venous
phase as dye en ers he venous channels.
A uoresceinblood in er ace may be seen
wi hin he aneurysms in he la e phases o he
angiogram.

PROGNOSIS AND
MANAGEMENT
Mos cavernous hemangiomas do no
enlarge and can be managed wi h periodic
observa ion.
T e main complica ion is vi reous hemorrhage, al hough his rarely causes permanen
visual loss.
umors causing recurren vi reous
hemorrhage may be rea ed wi h cryoherapy, laser pho ocoagula ion, or plaque
radio herapy.

Retinal Cavernous Hemangioma

251

FIGURE 6-5. Retinal cavernous hemangioma. Note the cluster o grapes appearance o these intraretinal
aneurysms (inset) . T ere is a lack o exudation, and sur ace gray retinal f brous tissue is noted. Courtesy o
Drs. Jerry and Carol Shields, Oncology Service, Wills Eye Hospital, Philadelphia, Pennsylvania.

252

6 RETINAL AND CHO RO IDAL TUMORS

CO
C
O N GEN
GE
E N I AL
AL
H YP
YPER
P E R RO
R O PH
PH Y OF
RE
R
E INAL
I NA
AL PIGMEN
PIGME
EN
EPI
E
PI H E
ELIUM
L I UM
M

HE

DEFINITION

ongeni al hyper rophy o he re inal pigmen epi helium (CH PE) is a benign,
asymp oma ic condi ion, consis ing o one or
more well-demarca ed, pigmen ed, a , nonprogressive lesions, usually ound in he equaorial or peripheral undus. In rare ins ances,
mul i ocal lesions may be associa ed wi h
amilial colonic polyposis.

EPIDEMIOLOGY
AND ETIOLO GY

Mul i ocal: Also ermed congeni al


grouped pigmen a ion or bear racks.
Groups o 3 o 30 small (0.1 o 2 mm)
lesions ypically appear in one sec or o he
midperipheral re ina. Usually hey lack he
in ernal lacunae and hypopigmen ed halo
o he soli ary orm.
Mul i ocal undus lesions resembling
CH PE have been repor ed in close associaion wi h Gardners syndrome (Fig. 6-7),
a amilial condi ion o colonic polyps and
ex rain es inal os eomas and f bromas wi h
invariable progression o colonic cancer. T e
lesions associa ed wi h Gardners syndrome,
however, are bila eral, have irregular borders,
and are o en scat ered in he undus.

DIFFERENTIAL DIAGNOSIS

T e condi ion is probably congeni al.


I occurs wi h equal requency in blacks
and whi es.

Malignan choroidal melanoma


Choroidal nevus
Combined hamar oma o he re ina and
re inal pigmen epi helium ( PE)

HISTORY

DIAGNOSTIC EVALUATION

Pa ien s are usually asymp oma ic. O en


he disorder is no ed as an inciden al f nding
during oph halmoscopy.

Diagnosis is based on ypical oph halmoscopic ea ures. By uorescein angiography,


he umor exhibi s persis en hypo uorescence. Lacunar areas are seen as hyper uorescen , consis en wi h depigmen a ion o he
PE.

IMPORTANT
CLINICAL SIGNS
wo orms have been described.
Soli ary: Unila eral, deeply pigmened, a , circular lesion measuring 1 o
6 mm in diame er. Usually sharply
demarca ed, he lesion may be solid
black, or ringed wi h a small border o
hypopigmen a ion. Lacunar areas o
depigmen a ion wi hin he lesion may
be seen (Fig. 6-6).

PROGNOSIS AND
MANAGEMENT
Mos CH PE lesions are nonprogressive
and require only periodic examina ion. In rare
ins ances, mild enlargemen may occur.
Pa ien s wi h bila eral lesions sugges ive o
hose seen in Gardners syndrome should be
re erred or colonoscopy.

Congenital Hypertrophy of the Retinal Pigment Epithelium

253

FIGURE 6-6. Congenital hypertrophy of the retinal pigment epithelium. Note the sharp, discrete borders
o the lesion as well as the lacunar areas o depigmentation ( arrow) within the lesion. Courtesy o Drs. Jerry and
Carol Shields, Oncology Service, Wills Eye Hospital, Philadelphia, Pennsylvania.

254

6 RETINAL AND CHO RO IDAL TUMORS

B
FIGURE 6-7. Pigmented fundus lesion, Gardner s syndrome. Pigmented lesion associated with Gardners
syndrome and amilial gastrointestinal cancer. A depigmented tail ( arrowheads) is noted adjacent to the
pigmented undus lesion (insets) . Courtesy o Drs. Jerry and Carol Shields, Oncology Service, Wills Eye
Hospital, Philadelphia, Pennsylvania.

Combined Hamartoma of the Retina and Retinal Pigment Epithelium

CO
C
O MBIN
M BIN
N ED
E D H AMAR
AMA
AR O MA
A
O F H E RE
R E INA
IN
N A AN
AN D
RE
R
E INAL
I N AL
L PIGMEN
P IGM
M EN
N
EPI
E
PI H EL
ELIUM
LI U M

255

vessels oward he lesion by he overlying


membrane.

ASSO CIATED
CLINICAL SIGNS

ombined hamar oma o he re ina and


PE is a benign, sligh ly eleva ed, par ially
pigmen ed umor loca ed around he op ic
nerve or in he peripheral undus. I is composed
his ologically o proli era ed glial cells, f brovascular issue, and pigmen epi helial cells.

Choroidal neovasculariza ion


Vi reous hemorrhage
Mani es a ions o neurof broma osis ype
2 (bila eral acous ic neuromas, brain meningiomas, spinal cord schwannomas, pos erior
subcapsular ca arac s)

EPIDEMIOLOGY
AND ETIOLO GY

DIFFERENTIAL DIAGNOSIS

T e umor is o en diagnosed by early


adul hood. T e preponderance o cases in
in an s and young children sugges s ha he
lesion may be congeni al.
An associa ion o combined hamar omas,
usually macular and some imes bila eral,
has been seen wi h neurof broma osis (mos
commonly ype 2).

HISTORY
In cases o jux a oveal lesions, here is
painless visual loss rom epimacular membrane rac ion or subre inal exuda ion.

IMPORTANT
CLINICAL SIGNS
Jux apapillary varian : Ill-def ned, eleva ed,
charcoal-gray mass adjacen o, or overlying,
he op ic disc. A gray-whi e membrane overlying he umor causes s re ching o re inal
blood vessels and re inal s riae, o en involving he macula (Fig. 6-8).
Peripheral varian : Sligh ly eleva ed,
pigmen ed ridge concen ric o he op ic
disc. T ere is dragging o dila ed re inal

Choroidal melanoma
Choroidal nevus
eac ive hyperplasia o he PE
Melanocy oma
When ligh ly pigmen ed and occurring in children, may be mis aken or b or
oxocariasis

DIAGNOSTIC EVALUATION
Diagnosis is based on oph halmoscopic
ea ures. Fluorescein angiography reveals
mul iple, dila ed, f ne blood vessels wi hin he
umor, which may become hyper uorescen
as he angiogram progresses.

PROGNOSIS AND
MANAGEMENT
Since lesions are usually no progressive,
regular observa ion is appropria e. However,
con rac ion o overlying f broglial issue leads
o macular dis or ion, secondary re inoschisis, and re inal holes.
In cases o visual loss, vi rec omy and
membrane s ripping may be per ormed, bu
visual recovery is limi ed.

256

6 RETINAL AND CHO RO IDAL TUMORS

FIGURE 6-8. Combined hamartoma of the retina and retinal pigment epithelium. T is is an example o the
juxtapapillary variant o the lesion. T e edge o an apparent membrane is noted most prominently on the nasal
aspect o the lesion. T ere is marked distortion and tortuosity o the involved retinal vasculature. Courtesy o
Drs. Jerry and Carol Shields, Oncology Service, Wills Eye Hospital, Philadelphia, Pennsylvania.

Choroidal Nevus

CH
H O RO
R O IDAL
ID
D AL N EVUS
E VUS
S

horoidal nevus is a common, benign


umor o he pos erior undus. Al hough
usually a or minimally eleva ed, and gray or
brown in appearance, i may show variable
degrees o pigmen a ion.

257

ASSO CIATED
CLINICAL SIGNS
Serous de achmen o he neurosensory
re ina or PE
Choroidal neovasculariza ion

DIFFERENTIAL DIAGNOSIS
EPIDEMIOLOGY
Prevalence in he general popula ion is
es ima ed o be 1% o 6%. T e umor occurs
much more commonly in whi es.

HISTORY
Pa ien s are usually asymp oma ic, and
he umor is generally discovered inciden ally
during rou ine oph halmoscopy.
Vision may be reduced rom ex ension o
associa ed subre inal uid in o he macula, or
rom an associa ed serous re inal de achmen .

IMPORTANT
CLINICAL SIGNS
T e umor is mos o en sla e gray or
brown in color, bu i may be he erogeneously
pigmen ed or even amelano ic (pale yellow).
Choroidal nevi are usually 1 o 5 mm in
diame er, a or minimally eleva ed (less han
2 mm in an eropos erior dimension), wi h illdef ned margins.
Drusen overlying he umor are common
and signi y chronici y o he lesion (Fig. 6-9).
Al era ions o he overlying PE include
pigmen clumping and f brous me aplasia
(yellow-whi e plaques). Orange pigmen a
he level o he PE represen s aggrega es o
macrophages con aining lipo uscin granules
and may sugges grow h or malignan ransorma ion o he nevus.

Pigmen ed lesion
Choroidal melanoma
Congeni al hyper rophy o he PE
Combined hamar oma o he re ina and
PE
Subre inal hemorrhage
Amelano ic lesion
Circumscribed choroidal hemangioma
Choroidal os eoma
Choroidal me as asis
In amma ory lesion

DIAGNOSTIC EVALUATION
Diagnosis is based on charac eris ic ophhalmoscopic ea ures. Fluorescein angiography, al hough no specif c or choroidal nevus,
may provide conf rma ory evidence. Areas
o deep pigmen a ion are hypo uorescen ,
whereas areas o overlying PE al era ion will
appear hyper uorescen .
Ul rasonography may be help ul or es ablishing baseline hickness.

PROGNOSIS AND
MANAGEMENT
All small choroidal melanocy ic
umors have he po en ial or malignan
rans orma ion and me as asis. isk ac ors
or grow h include grea er hickness (larger

258

6 RETINAL AND CHO RO IDAL TUMORS

han 2 mm), proximi y o he op ic disc,


orange pigmen on he sur ace o he umor,
and presence o subre inal uid. T e chance
o grow h o small, a (nonsuspicious)
lesions lacking hese clinical ea ures is less
han 5%.

Managemen consis s o baseline pho ographs and regular examina ion o es ablish
quiescence or grow h o he nevus. Serial
pho ographs, ul rasonography, and more requen examina ions are indica ed in cases o
suspec ed grow h.

FIGURE 6-9. Choroidal nevus. T is is a minimally elevated choroidal pigmented lesion with overlying
drusen ( arrow) . No orange pigment or submacular uid suggestive o potential trans ormation o a malignant
choroidal melanoma is noted. Courtesy o Drs. Jerry and Carol Shields, Oncology Service, Wills Eye Hospital,
Philadelphia, Pennsylvania.

Choroidal Melanoma

CH
C
H O RO
R O IDAL
I D AL MELAN
M EL
L AN
N O MA
A

horoidal melanoma is he mos common primary in raocular malignancy,


occurring mos o en in whi e adul s. Domeor mushroom-shaped, his variably pigmen ed mass arises rom he choroid o one
eye. I has a propensi y or me as asis o he
liver.

EPIDEMIOLOGY
AND ETIOLO GY
T e incidence is 1 in 2000 o 1 in 2500 in
Caucasians. In he Uni ed S a es, choroidal
melanoma is nearly en imes more common
in whi es han in A rican Americans.
T ere is no gender predilec ion.
T e umor is uncommon in people
younger han 30, bu incidence increases wi h
age and he average age a diagnosis is in he
six h decade.
isk ac ors may include prolonged exposure o ul raviole ligh , congeni al oculodermal melanocy osis (nevus o O a), and amily
his ory.
T e umor arises rom dendri ic melanocy es o he choroid. His opa hologically,
here are wo major ca egories o cells: spindle cells and epi helioid cells.
are associa ed karyo ypic abnormali ies
have been repor ed, mos commonly al eraions o chromosome 3.

HISTORY
T e malignancy is usually asymp oma ic
and painless.
Visual e ec s include blurred vision,
oa ers, pho opsia, and visual f eld
de ec s.

259

IMPORTANT
CLINICAL SIGNS
T e umor appears as a dome-shaped,
eleva ed choroidal mass, ypically conf ned
o he subre inal space. Abou 20% o choroidal melanomas break hrough Bruchs membrane and ake on a charac eris ic mushroom
shape.
Color varies rom brown o gray o pale
yellow (amelano ic), wi h overlying clumps
o orange pigmen , represen ing collec ions o
lipo uscin (Fig. 6-10).
Associa ed subre inal uid, usually surrounding he base o he lesion, may be no ed,
and he umor may lead o o al serous re inal
de achmen .

ASSO CIATED
CLINICAL SIGNS
Vi reous hemorrhage
Subre inal hemorrhage
Choroidal neovasculariza ion
Ex rascleral ex ension wi h orbi al
invasion

DIFFERENTIAL DIAGNOSIS
Choroidal nevus
Choroidal me as asis
Combined hamar oma o he re ina and
PE
Congeni al hyper rophy o he PE
(CH PE)
Circumscribed choroidal hemangioma,
reac ive hyperplasia o he PE
Bila eral di use uveal melanocy ic
proli era ion
Choroidal os eoma

260

6 RETINAL AND CHO RO IDAL TUMORS

DIAGNOSTIC EVALUATION
Diagnosis is based on oph halmoscopic
ea ures. Ul rasonography reveals an acous ically hollow, dome-shaped or mushroomshaped mass wi h low in ernal re ec ivi y.
Ul rasonographic measuremen s o umor
hickness are valuable in de ermina ion o
doses or radio herapy, as well as or serial
evalua ion ollowing rea men .
Fluorescein angiography o small choroidal umors shows early mot led hyper uorescence o he umor wi h progressive s aining
in he la e phases. Large umors display f lling
o large in rinsic vessels in he venous phase,
wi h di use la e s aining.

PROGNOSIS
Overall, 5-year survival or pa ien s wi h
choroidal melanoma is abou 80%. Median
survival is abou 7 years. Prognosis or survival depends on a varie y o ac ors, including age a diagnosis, in raocular loca ion,
ex en o me as asis, umor size, and umor
cell ype. T e 5-year mor ali y or pa ien s
wi h epi helioid melanomas is 42%; or hose
wi h spindle cell umors, 10%. T e 5-year
mor ali y or pa ien s wi h umors wi h larges basal umor diame er (L D) grea er han
15 mm is nearly 50%; or hose wi h L D less
han 10 mm, under 20%.
isk ac ors or me as asis include documen ed grow h, proximi y o he op ic disc,
and grea er umor hickness. Nearly one-hal
o he pa ien s wi h me as a ic choroidal
melanoma die wi hin 1 year o rea men .
T ere appears o be no di erence in mor ali y
in pa ien s rea ed ini ially wi h enuclea ion
when compared wi h hose rea ed wi h
iodine-125 plaque radio herapy.

Higher risk or me as asis and mor ali y


appears o be associa ed wi h specif c pat erns
o gene expression, which can be de ermined
hrough analysis o umor issue.

MANAGEMENT
Ocular
T e primary goal o rea men o choroidal
melanoma is preven ion o me as asis. Choice
o specif c modali y depends on umor size,
loca ion, and he pa ien s sys emic and psychological s a us.
Enuclea ion remains he s andard rea men or large melanomas (grea er han
12 mm in L D and 8 mm in hickness).
O her op ions or smaller umors include
ranspupillary hermo herapy (
),
radio herapy (plaque brachy herapy or
pro on-beam irradia ion), and local resec ion
(reserved or an erior lesions). Observa ion
is appropria e or small umors wi h lit le
evidence o grow h.
Pa ien s should be evalua ed regularly
wi h care ul unduscopy, serial undus pho ographs, and ul rasonography.
Systemic
T e vas majori y ( 98%) o pa ien s have
no discernible me as asis a he ime o diagnosis o heir choroidal melanoma.
Baseline sys emic evalua ion should be perormed in every pa ien , under he direc ion
o a medical oncologis . Assessmen ypically
includes comple e blood coun , liver enzyme
panel, ches roen genogram, and imaging (i.e.,
C or ul rasound) o he abdomen.
Measuremen o liver enzymes
should be per ormed regularly along
wi h oph halmoscopy.

Choroidal Melanoma

261

B
FIGURE 6-10. Choroidal melanoma. A. A large, elevated, pigmented choroidal mass surrounding the temporal
aspect o the optic disc is appreciated with overlying orange pigment. T e primary goal o treatment o choroidal
melanoma is prevention o systemic metastases. B. A large, elevated, pigmented choroidal mass with subretinal
uid and orange pigment. Orange pigment may represent macrophage ingestion o lipo uscin pigment and re ect
tumor activity. Courtesy o Drs. Jerry and Carol Shields, Oncology Service, Wills Eye Hospital, Philadelphia,
Pennsylvania.

262

6 RETINAL AND CHO RO IDAL TUMORS

CH
H O RO
R O IDAL
ID
D AL
L
MELAN
M
E LA
AN O C Y O MA
MA

ASSO CIATED
CLINICAL SIGNS

horoidal melanocy oma is a benign,


minimally progressive, deeply pigmen ed umor occurring a or around he
op ic nerve. I is probably a varian o choroidal nevus.

T e uninvolved area o he op ic disc may


become acu ely edema ous wi h an associa ed
decline in vision.
arely, neovascular glaucoma secondary o
vascular obs ruc ion may occur.

EPIDEMIOLOGY

DIFFERENTIAL DIAGNOSIS

Blacks and whi es are a ec ed equally.


Malignan melanomas, by con ras , occur
much less requen ly in black pa ien s.

HISTORY
Pa ien s are usually asymp oma ic.
Visual loss may occur in rare ins ances
o umor grow h or re inal vascular
obs ruc ion.
No inheri ance pat ern has been
recognized.

IMPORTANT
CLINICAL SIGNS
Charac eris ically, his charcoal gray or
gray-black umor is loca ed on or adjacen
o he op ic disc, wi h bo h a deep choroidal
componen and superf cial ex ension in o he
nerve f ber layer (Fig. 6-11).
I is usually unila eral.
A rela ive a eren papillary de ec (R PD)
may be seen in up o 30% o cases.

Jux apapillary choroidal melanoma


Choroidal nevus
Hyperplasia o he PE
Combined hamar oma o he re ina and
PE

DIAGNOSTIC EVALUATION
Diagnosis is based on charac eris ic ophhalmoscopic ea ures.
egular examina ions and serial undus
pho ographs are essen ial or documen a ion
o grow h or malignan rans orma ion.

PROGNOSIS AND
MANAGEMENT
T e pa ien is ollowed by observa ion.
oughly 15% o melanocy omas exhibi
small degrees o enlargemen . However,
malignan rans orma ion is possible and is
o en heralded by more rapid grow h and
visual changes. In such cases, enuclea ion o
he a ec ed eye should be considered.

Choroidal Melanocytoma

263

FIGURE 6-11. Choroidal melanocytoma. Note the dark brown lesion involving the optic disc. T ere are
eathery edges to the lesion. A small percentage ( 15%) o melanocytomas will demonstrate some growth;
malignant trans ormation is rare but has been reported. Courtesy o Drs. Jerry and Carol Shields, Oncology
Service, Wills Eye Hospital, Philadelphia, Pennsylvania.

264

6 RETINAL AND CHO RO IDAL TUMORS

CH
C
H O RO
R O IDAL
I D AL ME
ME A
AS
S ASIS
ASII S

horoidal me as asis is he mos common


in raocular malignancy, visible oph halmoscopically in up o 1% o pa ien s wi h
sys emic malignancy (mos commonly arising rom he lungs or breas s). Clinically i is
apparen as an amelano ic, shallow, round or
oval choroidal mass pos erior o he equa or.
Choroidal me as asis is usually unila eral bu
may be mul i ocal and bila eral. I is he presen ing sign o me as a ic malignancy in up o
one- hird o he pa ien s.

EPIDEMIOLOGY
AND ETIOLO GY
T ere is a cumula ive li e ime incidence o
1 in 400 o 1 in 1000 Americans.
A au opsy, microscopic in raocular
lesions are de ec able in 5% o 10% o
pa ien s wi h sys emic malignancy; o
hese, 10% have clinically apparen lesions.
he increasing incidence is likely a ribu able o increased survival o pa ien s wi h
cancer, improved de ec ion, and grea er
awareness.
T e mos common primary malignancy
is breas carcinoma in women and lung carcinoma in men. In pa ien s wi h no known
primary si e a he ime o diagnosis, sysemic evalua ion leads o diagnosis o lung
carcinoma in one- hird o he pa ien s and
breas carcinoma in one- en h o he pa ien s.
Known primary si es o her han breas s
and lungs comprise less han 10% o cases
wi h choroidal me as asis. In one-hal o
he pa ien s, however, a primary si e is no
discovered.
umors are overwhelmingly carcinomas,
rarely sarcomas. Spread is hema ogenous.
Cy ologic f ndings are consis en wi h he
umor o origin.

HISTORY
Blurred vision (usually painless) is
repor ed in 80% o pa ien s. Floa ers and
visual f eld de ec s are o her symp oms,
along wi h eye pain (5% o 15%). A his ory
o malignancy is no ed in 65% o 75% o
pa ien s.

IMPORTANT
CLINICAL SIGNS
T e umor appears as a round or oval,
placoid, minimally eleva ed choroidal mass
ha is variable in color. I is uni ocal and
unila eral in roughly wo- hirds o he cases.
Me as ases rom breas and lung are ypically
pale yellow, whereas hose rom cu aneous
melanoma are dark gray or brown
(Fig. 6-12). O her umors wi h charac eris ic colora ion include me as a ic renal cell
and hyroid carcinoma ( ypically orange-red)
and me as a ic carcinoid umors ( ypically
pink or yellow-orange).
ypically he umor is loca ed pos erior o
he equa or (grea er han 90%); i is predominan ly macular in roughly 10%.
umor grow h may resul in disc edema
and serous re inal de achmen .

ASSO CIATED
CLINICAL SIGNS
Conjunc ival injec ion
Hyperopic shi
Neovascular glaucoma

DIFFERENTIAL DIAGNOSIS
Amelano ic choroidal melanoma
Circumscribed choroidal hemangioma

Choroidal Metastasis

e inal as rocy oma


Choroidal os eoma
In raocular lymphoma
Sclerochoroidal calcif ca ion
Cen ral serous choriore inopa hy
Choroidal granuloma
Pos erior scleri is
Vi elli orm dys rophy

DIAGNOSTIC EVALUATION
Fluorescein angiography o carcinoma
me as a ic o he choroid shows early hypouorescence o he lesion wi h a rela ive
pauci y o in rinsic vessels, and di use hyperuorescence o he umor in he la e phases
o he s udy. Indocyanine green angiography
may demons ra e addi ional, smaller choroidal umors.
Ul rasonography is mos help ul or
eleva ed umors; hey appear hyperechoic
(brigh ) wi h high in ernal re ec ivi y. Fineneedle aspira ion biopsy may be help ul, especially in pa ien s wi h no known malignancy.

PROGNOSIS
Mos me as a ic umors are relen lessly
progressive and end o grow as er han primary choroidal malignancies. I un rea ed,
bullous re inal de achmen can lead o

265

blindness and secondary angle-closure


glaucoma.
Op ic disc edema causes pro ound and
o en irreversible visual loss. Fac ors rela ed o
he preserva ion o vision and eye s ruc ures
include number and size o umors, proximi y
o he op ic nerve and ovea, and responsiveness o herapy.
Survival is rela ed o e ec ive rea men
and remission o sys emic disease. Pa ien s
wi h choroidal me as asis rom breas carcinoma end o survive longer han pa ien s
wi h choroidal me as ases rom o her si es.

MANAGEMENT
Ocular: Choroidal me as ases are mos
o en rea ed wi h ex ernal-beam radio herapy, chemo herapy, hormonal herapy, or a
combina ion. Single, smaller umors may be
rea ed e ec ively wi h plaque radio herapy.
Sys emic: Pa ien s wi h sys emic disease
should be re erred o a medical oncologis .
Managemen o pa ien s wi h a known primary ex raocular malignancy requires a s aging evalua ion appropria e or he primary
umor. Pa ien s wi h no known primary si e
a ime o diagnosis are evalua ed wi h a horough physical examina ion (wi h at en ion o
breas s and lymph nodes), mammography,
ches roen genogram, C o he ches , abdomen, and pelvis, and bone and PE scans.

266

6 RETINAL AND CHO RO IDAL TUMORS

B
FIGURE 6-12. Choroidal metastasis. A. Metastatic lung cancer presents as an amelanotic choroidal lesion
( arrow) superior to the optic disc. Most choroidal metastases occur posterior to the equator. T ey may be
uni ocal or multi ocal. (Courtesy o Drs. Jerry and Carol Shields, Oncology Service, Wills Eye Hospital,
Philadelphia, Pennsylvania.) B. Choroidal metastasis to iris. Metastatic breast cancer presents initially to the
patient as an amelanotic iris mass.

Choroidal Hemangioma

CH
C
H O RO
O IDAL
I D AL
H EM
EMAN
M AN
N GI
GIO
I O MA
MA

horoidal hemangioma is a benign vascular umor ha occurs in wo orms:


circumscribed (discre e) and di use. T e circumscribed varian is a well-def ned, orangered, dome-shaped mass, usually occurring
in he pos erior undus and diagnosed by
he our h decade o li e. T e di use varian
is charac eris ically associa ed wi h S urge
Weber syndrome (encephalo rigeminal angioma osis) and is diagnosed a a younger age. I
gives a markedly asymme ric, brigh red re ex
o he undus o he involved eye.

EPIDEMIOLOGY
Circumscribed ype: Sporadic, usually
diagnosed in hird or our h decade. May be
worsened by pregnancy. Usually unila eral.
Di use ype: Diagnosed in childhood.
Occurs in roughly one- hird o he pa ien s
wi h S urgeWeber syndrome. Usually unila eral and ipsila eral o he charac eris ic acial
hemangioma (nevus ammeus, or por -wine
s ain), bu may be bila eral and associa ed
wi h bila eral acial hemangiomas.

HISTORY
Pa ien s may be asymp oma ic.
Visual impairmen is usually painless and
resul s rom hyperopic shi (in cases o submacular umor) or subre inal uid.

IMPORTANT
CLINICAL SIGNS
Circumscribed ype
Discre e, sligh ly eleva ed, orange-red
mass arising in he pos erior choroid

267

Serous re inal de achmen in wo- hirds


o he cases
Overlying PE me aplasia or re inoschisis (Fig. 6-13)
Di use ype
Brigh red color involving a large secion (more han 50%) o he undus
or uosi y o overlying re inal vessels
Shi ing subre inal uid
Mani es a ions o S urgeWeber syndrome include acial nevus ammeus (100%
o pa ien s), cerebral abnormali ies, and in racranial calcif ca ions. Asymme ric cupping o
he op ic nerve (due o congeni al glaucoma)
occurs, par icularly in cases o nevus ammeus involving he ipsila eral upper eyelid.

ASSOCIATED
CLINICAL SIGNS
Choroidal neovasculariza ion (circumscribed ype)
e ini is pigmen osa-like changes (di use
ype)

DIFFERENTIAL DIAGNOSIS
Cen ral serous re inopa hy
Amelano ic choroidal melanoma
Choroidal me as asis
Choroidal in amma ion

DIAGNOSTIC EVALUATION
Fluorescein angiography and indocyanine
green angiography reveal early hyper uorescence corresponding o f lling o choroidal
vessels eeding he umor.
B-scan ul rasonography demons ra es a
dome-shaped eleva ion in he case o a circumscribed hemangioma and marked choroidal hickening in cases o di use umors.

268

6 RETINAL AND CHO RO IDAL TUMORS

PROGNOSIS AND
MANAGEMENT
Managemen consis s o observa ion as
long as he pa ien s are asymp oma ic. In
cases o macular involvemen or ex ensive
re inal de achmen , visual impairmen is
inevi able, and rea men is indica ed.

rea men consis s o radia ion herapy


(ex ernal-beam, cobal -60 brachy herapy,
or pro on-beam irradia ion). Delimi ing
laser pho ocoagula ion, ex ernal drainage,
or scleral buckling is indica ed or re inal
de achmen .

FIGURE 6-13. Choroidal hemangioma, circumscribed type. A macular choroidal hemangioma demonstrates
submacular uid and overlying retinal pigment epithelial metaplasia ( arrow) . T is lesion is o en con used with
central serous retinopathy. Courtesy o Drs. Jerry and Carol Shields, Oncology Service, Wills Eye Hospital,
Philadelphia, Pennsylvania.

Intraocular Lymphoma

IIN
N R
RAO
AO
O CULAR
C U L AR
LYMPH
L
YM P H O MA
MA

n raocular lymphoma is a malignan , indolen , o en bila eral, lymphocy ic proli eraion wi h di use inf l ra ion o he pos erior
segmen ha occurs in wo orms: (1) arising
primarily rom he eye or CNS; or (2) sysemic, usually visceral, lymphoma, me as a ic
o he uvea. Mos o en i a ec s older pa ien s
and is associa ed wi h CNS lymphoma.
In raocular lymphoma was ormerly ermed
reticulum cell sarcoma.

EPIDEMIOLOGY
AND ETIOLO GY
Usually in raocular lymphoma a ec s
immunocompe en pa ien s in heir six h o
seven h decade. I is bila eral in up o 90%
o cases. A more aggressive orm is seen in
pa ien s who are severely immunocompromised, mos commonly rom he acquired
immunodef ciency syndrome (AIDS).
In raocular lymphoma is he presen ing
sign o CNS lymphoma in 80% o pa ien s,
bu may precede CNS involvemen by up o
10 years (mean o 2 years). T e incidence
appears o be increasing, possibly as a resul
o more widespread immunosuppression or
improved diagnosis.
Mos o en he lymphoma is a large-cell B
lymphocy ic (i.e., non-Hodgkin) umor. I is
hough o arise rom cells o he re ina, PE,
brain, meninges, and spinal cord.

HISTORY
Pa ien s have a his ory o oa ers and painless visual loss.
Chronic, unremit ing vi ri is ha is unresponsive o cor icos eroids occurs, along wi h
neurologic impairmen .

269

IMPORTANT
CLINICAL SIGNS
Vi reous in amma ion
Mul iple, yellow-whi e lesions deep o he
re ina ha progressively enlarge and coalesce
Overlying pigmen ary al era ions

ASSO CIATED
CLINICAL SIGNS
An erior uvei is
e inal vasculi is, leading o vascular
obs ruc ion (Fig. 6-14)
Op ic disc edema

DIFFERENTIAL DIAGNOSIS
Vi ri is
Amyloidosis
Old vi reous hemorrhage
Senile vi ri is
e inal inf l ra es and vasculi is
oxoplasmosis
Cy omegalovirus re ini is
Acu e re inal necrosis
Sarcoidosis
Subre inal inf l ra es
Mul i ocal choroidi is
Acu e pos erior mul i ocal placoid
pigmen epi heliopa hy
Mul iple evanescen whi e do syndrome
Fundus avimacula us
Choroidal granuloma
Amelano ic choroidal melanoma
Choroidal me as asis
Bila eral di use uveal melanocy ic
proli era ion

270

6 RETINAL AND CHO RO IDAL TUMORS

DIAGNOSTIC EVALUATION
In he absence o known CNS disease,
vi reous biopsy ( hrough ei her f ne-needle
aspira ion or pars plana vi rec omy) has he
grea es diagnos ic yield. Mul iple vi reous
specimens may be needed.

PROGNOSIS AND
MANAGEMENT
All pa ien s wi h in raocular lymphoma
should be evalua ed or CNS and sys emic
involvemen , by neurologic examina ion,

neuroimaging ( hin-sec ion magne ic resonance imaging), lumbar punc ure, and bone
marrow biopsy.
Un rea ed, mos pa ien s die wi hin a
ew years o diagnosis. Pa ien s wi h disease
limi ed o he eye may be rea ed wi h
ex ernal-beam irradia ion only. Adjunc
chemo herapy and cor icos eroids prolong survival o a median o 41 mon hs
(wi h 22% disease- ree a 5 years), bu do
no decrease he risk o subsequen CNS
involvemen .
Ocular relapse, especially wi hin he f rs
year a er rea men , is common.

FIGURE 6-14. Intraocular lymphoma. Hazy photograph demonstrating vitritis and intraretinal invasion o
lymphoma with associated hemorrhagic retinal vasculitis. Courtesy o Drs. Jerry and Carol Shields, Oncology
Service, Wills Eye Hospital, Philadelphia, Pennsylvania.

Choroidal Osteoma

CH
C
H O RO
O IDAL
I D AL
L OS
S EO
E O MA
A

horoidal os eoma is a rare, benign choroidal umor composed o ma ure bone,


occurring mos commonly in he pos erior
pole o one eye o heal hy young women.

EPIDEMIOLOGY
AND ETIOLO GY
T e umor mos o en a ec s women
younger han 30 years o age.
I is unila eral in 75% o cases and usually
sporadic, bu rare amilial cases have been
repor ed.

HISTORY
Pa ien s are usually asymp oma ic.
Diminished visual acui y or me amorphopsia are caused by macular involvemen
by he umor or by associa ed choroidal
neovasculariza ion.

IMPORTANT
CLINICAL SIGNS
T e umor is mos o en adjacen o, or
surrounding, he op ic disc. I appears pale
yellow o orange in color and is minimally
eleva ed (usually less han 2 mm in hickness). Overlying clumping o brown, gray,
or orange pigmen may be no ed (Fig. 6-15).

ASSO CIATED
CLINICAL SIGNS
Choroidal neovasculariza ion
Serous re inal de achmen

271

DIFFERENTIAL DIAGNOSIS
Amelano ic choroidal melanoma
Carcinoma me as a ic o he choroid
Circumscribed choroidal hemangioma
Disci orm scar o age-rela ed macular
degenera ion
Idiopa hic sclerochoroidal calcif ca ion

DIAGNOSTIC EVALUATION
Diagnosis is based on ypical oph halmoscopic ea ures. Fluorescein angiography
reveals early mot led hyper uorescence and
la e di use s aining. Leakage rom associa ed choroidal neovasculariza ion may be
seen.
B-scan ul rasonography demons ra es a
mildly eleva ed, highly re ec ive choroidal
mass wi h acous ic shadowing.
C reveals ocal hyperin ensi y similar o
bone in he a ec ed choroid.

PROGNOSIS AND
MANAGEMENT
Prognosis is variable. Visual loss may
resul rom degenera ion o he overlying
PE, choroidal neovasculariza ion, or re inal
de achmen .
Managemen consis s o observa ion
and, as appropria e, rea men o choroidal
neovasculariza ion.

272

6 RETINAL AND CHO RO IDAL TUMORS

FIGURE 6-15. Choroidal osteoma. Peripapillary choroidal osteoma is yellow-white in color and there are
some overlying areas o clumping o brown pigment. B-scan ultrasonography o choroidal osteoma shows
a highly re ective choroidal mass with acoustic shadowing behind the lesion; this is due to intrinsic bone.
Courtesy o Drs. Jerry and Carol Shields, Oncology Service, Wills Eye Hospital, Philadelphia, Pennsylvania.

C H AP T ER

Congeni al and
Pedia ric Re inal Diseases
Nikolas J.S. London and Richard S. Kaiser

RE
E IN
I N O PA
PA H Y O F
PREMA
PR
R EM
M A URI
U RI Y

o he re ina. Con inued grow h and con racion o f brovascular issue may lead o re inal
de achmen .

HISTORY

e inopa hy o prema uri y (ROP) is a


proli era ive re inopa hy o prema ure,
low-bir h-weigh in an s.

EPIDEMIOLOGY
AND ETIOLO GY
Despi e recen advances, ROP remains a
leading cause o visual loss in children. In an s
born a less han 30 weeks ges a ion and/
or hose wi h a bir h weigh o 1500 g or less
should be examined by indirec oph halmoscopy. In an s who are born weighing 1000 g or
less are a par icularly high risk o developing
severe ROP.
T e re inal vascula ure o in an s born
prema urely has no comple ed i s grow h o
he ora serra a. T e developing vascula ure is
suscep ible o capillary endo helial cy o oxici y. Pre-exis ing vessels are damaged and
neovasculariza ion develops o he sur ace

T e cri ical componen s o he his ory are


he bir h weigh , he ges a ional age a bir h,
he curren pos mens rual age, and he curren
chronological age. One should also inquire
regarding he use o mechanical ven ila ion and/
or supplemen al oxygen, he leng h o s ay in he
neona al ICU, blood rans usions, he presence
o any bronchodysplasia or hyaline membrane
disease. Pregnancy his ory, ma ernal heal h, and
amily his ory are also o en ob ained.

DIAGNOSTIC EVALUATION
Care ul examina ion o neona es wi h
indirec oph halmoscopy in he in ensive care
nursery or a discharge is essen ial o de ec
ROP a a s age where rea men can be applied.
Examina ions should s ar a 31 weeks
pos mens rual age or by 4 weeks chronological
273

274

7 CO NGENITAL AND PEDIATRIC RETINAL DISEASES

age, based on ges a ional age, and should


con inue every 1 o 3 weeks, un il one o he
ollowing occurs:
T ere is vasculariza ion o zone III
wi hou prior zone I or II disease.
Pos mens rual age 45 weeks is achieved
wi h no pre hreshold ROP.
T e re ina is comple ely vascularized.
T ere is o al regression o rea ed ROP.

IMPORTANT
CLINICAL SIGNS
T e pos erior segmen signs o ROP ollow a progression o increasing severi y ha
were classif ed according o he In erna ional
Classif ca ion o ROP (ICROP).
Firs he loca ion o he disease is de ermined, hen he s age o severi y, and f nally
he ex en o ha s age is no ed (Table 7-1,
Figs. 7-1 to 7-5).

ASSO CIATED
CLINICAL SIGNS
Plus disease deno es increased severi y.
When an eye has dila ion and or uosi y o
he re inal vessels in he pos erior pole, hen
i is said o have plus disease and has a poorer
prognosis (Fig. 7-6). When vasculariza ion is
only presen in zone I and here is plus disease,
hen a very poor prognosis exis s because o
he risk o rapid progression (rush disease).
T reshold disease is a level o ROP
a which i is predic ed ha here is a 50%
chance o progression o re inal de achmen wi hou rea men . I was def ned
in he CRYO-ROP s udy as 5 con iguous
clock hours o ex rare inal f brovascular
proli era ion (ERFP) wi h plus disease or 8
accumula ed clock hours o ERFP wi h plus
disease (Fig. 7-7). When hreshold disease

TABLE 7-1. In erna ional Classif ca ion


o Re inopa hy o Prema uri y (ICROP)
Location
Zone I

Posterior circle o retina centered


on the optic nerve with a radius o
twice the disc- ovea distance

Zone II

Circular area o retina rom the


edge o zone I to the nasal ora
serrata

Zone III

Remaining temporal crescent o


retina

Extent
Number o clock hours or 30-degree sectors involved
Severity
Stage 1

Demarcation line between


posterior vascularized retina and
anterior avascular retina

Stage 2

Demarcation line with height,


width, and volume (ridge)

Stage 3

Ridge with extraretinal


f brovascular proli eration
(ERFP); may be mild, moderate,
or severe

Stage 4

Subtotal retinal detachment

4A

Extra oveal

4B

Involving the ovea

Stage 5

Total retinal detachment; always


unnel-shaped
Open anteriorly, open posteriorly
Open anteriorly, narrow
posteriorly
Narrow anteriorly, open
posteriorly
Narrow anteriorly, narrow
posteriorly

is reached, rea men is recommended. In


addi ion, curren guidelines indica e rea men wi hin 72 hours or he ollowing clinical si ua ions:
Zone I, any s age, wi h plus disease

Retinopathy o Prematurity

Zone I, s age III, wi h or wi hou plus


disease
Zone II, s age II or III, wi h plus
disease
Occasionally neovascular issue may orm
buds o vascular proli era ion behind he
ridge or demarca ion line. T ese lesions are
called popcorn because o heir similari y o popped corn (see Fig. 7-3A). T ese
lesions do no carry any prognos ic signif cance unless hey are a par o ERFP a he
advancing border o vasculariza ion. Vi reous
hemorrhage and prere inal hemorrhage can
occasionally be seen in eyes wi h severe
ERFP.
In early cica ricial ROP (a er resolu ion
o he acu e phase) here may be a varie y o
rac ional complica ions. A hallmark f nding
o regressed cica ricial ROP is emporal re inal dragging (Fig. 7-8).
A er regression o ROP, ei her spon aneously or wi h rea men , several associa ed
abnormali ies may occur.
Myopia
As igma ism
S rabismus
Amblyopia
Ca arac
Glaucoma
Macular ec opia
Re inal old
Re inal de achmen rhegma ogenous
or exuda ive

DIFFERENTIAL DIAGNOSIS
T e clinical set ing usually aids in he diagnosis o ROP. In an s are born prema urely
and are o low bir h weigh wi h a his ory o
oxygen exposure.

275

Di eren ial diagnosis depends on he


s age o he disease. In less severe ROP,
condi ions ha cause peripheral re inal vascular changes and re inal dragging should be
considered.
Familial exuda ive vi reore inopa hy
(FEVR)
Incon inen ia pigmen i (Bloch
Sulzberger syndrome)
X-linked re inoschisis
Norries disease
In advanced cica ricial ROP, he di erenial diagnosis is ha o re inal de achmen or a
whi e pupillary re ex, or bo h.
Ca arac
FEVR
Persis en e al vascula ure (PFV)
Ocular oxocariasis
In ermedia e uvei is
Coa s disease
Re inoblas oma
Vi reous hemorrhage
Re inal de achmen
Endoph halmi is

PROGNOSIS AND
MANAGEMENT
T e majori y o in an s who develop
ROP undergo spon aneous regression (85%).
However, 7% o in an s weighing less han
1251 g a bir h will develop hreshold ROP.
Cryo herapy o he an erior avascular zone
(Fig. 7-9) has been shown o reduce he likelihood o an un avorable ou come (re inal old
hrough zone I, re inal de achmen , or re rolen al f broplasia) by 50% in he cryo herapy
or ROP S udy. Visual resul s are commensura ely improved.

276

7 CO NGENITAL AND PEDIATRIC RETINAL DISEASES

Laser pho ocoagula ion delivered wi h an


indirec oph halmoscope o he an erior avascular zone has vir ually replaced cryo herapy or
hreshold ROP (Fig. 7-10). Laser burns should
be spaced evenly, approxima ely one-hal burn
wid h apar , wi h par icular at en ion o he mos
pos erior avascular re ina. Bet er visual ou comes
have been achieved wi h laser rea men .
An iangiogenic injec ion herapy
or ROP is being inves iga ed, wi h

early repor s o success. Bevacizumab


elimina es he angiogenic hrea o ROP
is a randomized rial comparing in ravi real bevacizumab o conven ional laser
rea men .
More advanced s ages o ROP (s ages
4 and 5 re inal de achmen ) can be rea ed
wi h scleral buckling or vi rec omy, or bo h.
T e prognosis or visual recovery a er re inal
de achmen remains poor.

277

Retinopathy o Prematurity
12

12

CLOCK HOURS

ZONE III
ZONE III

ZONE II

ZONE II
ZONE I

ZONE I

OPTIC
N.

MACULA

3
9

ORA SERRATA
6

RE

LE

FIGURE 7-1. Retinopathy o prematurity (ROP). Schema ic diagram o division o undus in o zones or
def ning loca ion o involvemen wi h ROP.

FIGURE 7-2. ROP, stage 2. T e demarca ion line ( arrow) be ween pos erior vascularized and an erior
avascular re ina is eleva ed as a ridge.

278

7 CO NGENITAL AND PEDIATRIC RETINAL DISEASES

B
FIGURE 7-3. ROP, stage 3. A. T e ridge has f brovascular issue and is eleva ed o he sur ace o he re ina
(ex rare inal f brovascular proli era ion, or ERFP) . T is is an example o severe s age 3 ROP. Buds o vascular
proli era ion behind he ridge are popcorn lesions ( arrow) . B. Fluorescein angiogram rom same pa ien as in
A showing in ense hyper uorescence rom vascular proli era ive issue in region o ridge.

Retinopathy o Prematurity

279

FIGURE 7-4. ROP, stage 5. Eye wi h shallow o al re inal de achmen . No e loss o choroidal de ail due o
shallow subre inal uid accumula ion in pos erior pole.

FIGURE 7-5. ROP, stage 5. T is eye has a o al rac ional re inal de achmen due o severe f brous proli era ion
wi h con rac ion o he f brous issue. No e he vascularized issue behind he clear lens.

280

7 CO NGENITAL AND PEDIATRIC RETINAL DISEASES

FIGURE 7-6. ROP, plus disease. Dila ion and or uosi y o vessels in he pos erior pole deno es progressive
disease and is known as plus disease.

12

12

CLOCK HOURS

ZONE III
ZONE III

ZONE II

ZONE II

ZONE I

ZONE I

3
9

MACULA

ORA SERRATA
6

RE

LE

FIGURE 7-7. ROP, threshold disease. Schema ic diagram o hreshold disease according o he Cryo herapy
or Re inopa hy o Prema uri y S udy Group. Reprin ed by permission o American Medical Associa ion rom
Cryo herapy or Re inopa hy o Prema uri y Coopera ive Group. Mul icen er rial o cryo herapy o re inopa hy
o prema uri y: Preliminary resul s. Arch Ophthalmol 1988;106:474.

Retinopathy o Prematurity

281

FIGURE 7-8. ROP. Severe dragging o he emporal re ina wi h vascular s raigh ening (arrow) is a la e
cica ricial complica ion o ROP. Compare wi h amilial exuda ive vi reore inopa hy, in Figure 7-18A.

282

7 CO NGENITAL AND PEDIATRIC RETINAL DISEASES

B
FIGURE 7-9. ROP, cr yotherapy. A. T e arrow poin s o he an erior avascular zone where cryo herapy will
be placed or hreshold ROP. B. La e pos opera ive appearance o cryo herapy. No e regression o ex rare inal
f brovascular proli era ion.

Retinopathy o Prematurity

283

B
FIGURE 7-10. ROP. A. Preopera ive appearance o an eye wi h pos erior hreshold ROP. B. La e pos opera ive
appearance a er laser pho ocoagula ion. No e regression o ex rare inal f brovascular proli era ion.

284

7 CO NGENITAL AND PEDIATRIC RETINAL DISEASES

IN
N CO
O N IN EN
E N IA
A
PIGMEN
PI
I G MEN I

ncon inen ia pigmen i, or Bloch


Sulzberger syndrome, is a rare X-linked
dominan condi ion ha includes ocular, skin,
cen ral nervous sys em, skele al, den al, and
o her sys emic abnormali ies.

EPIDEMIOLOGY
AND ETIOLO GY
T e pa hogenesis o incon inen ia pigmen i
is unknown. I is an X-linked dominan condiion ha is usually le hal in males and hus
usually only seen in emale in an s. However,
an a ec ed male wi h Kline el er syndrome
(XXY) or a gene ic mosaicism may survive.

T e ocular abnormali ies are o en


ex remely asymme ric.

ASSO CIATED
CLINICAL SIGNS
O her ocular f ndings include ca arac ,
conjunc ival pigmen a ion, and s rabismus.
Skin f ndings, or which he disease is named,
include vesicular skin erup ions (Fig. 7-13)
ha la er urn in o depigmen ed lesions
(Fig. 7-14). T ese changes s ar days a er
bir h.
Den al abnormali ies consis ing o missing or cone-shaped ee h are presen in
approxima ely wo- hirds o a ec ed individuals (Fig. 7-15). Associa ed cen ral nervous
sys em abnormali ies include seizures, spasic paralysis, and men al re arda ion.

HISTORY
Charac eris ic skin changes usually s ar
days a er bir h, wi h oph halmic f ndings
developing in in ancy or even la er in li e.

IMPORTANT
CLINICAL SIGNS
Approxima ely one- hird o in an s wi h
incon inen ia pigmen i have ocular f ndings.
Fundus abnormali ies include dila ed, or uous re inal vessels, peripheral re inal capillary
nonper usion wi h ar eriovenous anas omoses and neovasculariza ion (Figs. 7-11 and
7-12), oveal hypoplasia, branch ar ery occlusions, neovasculariza ion o he disc, re inal
dragging, rac ional and rhegma ogenous
re inal de achmen s, re inal olds, vi reous
hemorrhage, and op ic disc pallor.

DIFFERENTIAL DIAGNOSIS
As or early s ages o ROP:
FEVR
Incon inen ia pigmen i (Bloch
Sulzberger syndrome)
X-linked re inoschisis
Norries disease
I re inal de achmen is a presen ing f nding, o her causes o in an ile re inal de achmen should be considered.

DIAGNOSTIC EVALUATION
Clinical evalua ion including examina ion
o he skin may lead o a diagnosis o incon inen ia pigmen i.

Incontinentia Pigmenti

PROGNOSIS AND
MANAGEMENT
Mos pa ien s wi h incon inen ia pigmen i
require no rea men .
Progressive peripheral re inal neovasculariza ion may respond o laser

285

pho ocoagula ion or cryo herapy. In ravi real


an i-VEGF agen s have been used wi h limi ed success.
Re inal de achmen s may be repaired wi h
scleral buckling or vi rec omy, or bo h.

FIGURE 7-11. Incontinentia pigmenti. Peripheral undus o a pa ien wi h incon inen ia pigmen i showing
peripheral re inal capillary nonper usion and ar eriovenous anas omoses ( arrow) .

286

7 CO NGENITAL AND PEDIATRIC RETINAL DISEASES

FIGURE 7-12. Incontinentia pigmenti. Fluorescein angiogram o he peripheral undus o a pa ien wi h


incon inen ia pigmen i showing peripheral re inal capillary nonper usion and ar eriovenous anas omoses ( arrow).

FIGURE 7-13. Incontinentia pigmenti, dermatologic f ndings. Vesicular skin lesions in an in an wi h


incon inen ia pigmen i.

Incontinentia Pigmenti

287

FIGURE 7-14. Incontinentia pigmenti, dermatologic f ndings. Pigmen ary al era ion o he skin in a pa ien
wi h resolved vesicular erup ions o incon inen ia pigmen i.

288

7 CO NGENITAL AND PEDIATRIC RETINAL DISEASES

FIGURE 7-15. Incontinentia pigmenti, dental f ndings. Den al x ray o cone shaped oo h in a pa ien wi h
incon inen ia pigmen i.

Familial ExudativeVitreoretinopathy

FAM
FAMILIAL
M ILII AL E
EXUDA
XUD
D A IIVE
VE
E
VII R
V
REO
EO
OR
RE
E IN
N O PA
A HY
FEVR is a group o au osomaldominan undus disorders charac erized
by peripheral re inal nonper usion and
neovasculariza ion.

EPIDEMIOLOGY
AND ETIOLO GY
T e exac e iology o FEVR is unknown. I
is an au osomal-dominan heredi ary disorder
(rare cases o X-linked inheri ance have been
repor ed) ha is asymp oma ic in 50% o
cases.

HISTORY
In an s born wi h FEVR are o herwise
heal hy. T ere is usually no his ory o prema uri y, oxygen exposure, or respira ory
di cul ies.
T e clinical ea ures vary considerably and, al hough bila eral, here is o en
asymme ry.
In an s may presen wi h s rabismus or a
whi e pupillary re ex i he f ndings are severe.
However, symp oms o decreased vision may
occur a any age.

IMPORTANT
CLINICAL SIGNS
T e classic f nding in FEVR is peripheral
re inal capillary nonper usion (Fig. 7-16).
Peripheral neovasculariza ion may orm a he
border o pos erior vascularized and an erior
avascular re ina (Fig. 7-17). Re inal dragging
rom con rac ion o f brovascular issue may
occur (Fig. 7-18). Vi reous hemorrhage rarely
occurs.

289

Progression o more severe changes


such as rac ional, exuda ive, and even rhegma ogenous re inal de achmen may occur
(Fig. 7-19). In rare inal and subre inal lipid
exuda ion may some imes occur.
T e f ndings are o en asymme ric.

ASSO CIATED
CLINICAL SIGNS
In severe cases wi h re inal de achmen ,
here may be ca arac , band kera opa hy, neovascular glaucoma, ph hisis, or a combina ion
o hese f ndings.

DIFFERENTIAL DIAGNOSIS
As or early s ages o ROP:
FEVR
Incon inen ia pigmen i (Bloch
Sulzberger syndrome)
X-linked re inoschisis
Norries disease
I re inal de achmen is a presen ing f nding, o her causes o in an ile re inal de achmen should be considered.

DIAGNOSTIC EVALUATION
ypical undus f ndings are no ed on
oph halmoscopy.
I FEVR is suspec ed, examina ion o he
peripheral re ina o asymp oma ic amily
members may reveal f ndings consis en wi h
he diagnosis.

PROGNOSIS AND
MANAGEMENT
Pa ien s who are a ec ed a a young age
usually have more severe pa hology. Laser

290

7 CO NGENITAL AND PEDIATRIC RETINAL DISEASES

pho ocoagula ion or cryo herapy o he


peripheral avascular re ina may preven progression o f brovascular complica ions.
Scleral buckling and vi rec omy surgery
have been at emp ed or more severe cases
wi h re inal de achmen .

All amily members o an a ec ed individual should be examined, because progressive


changes may occur hroughou li e.

FIGURE 7-16. Familial exudative vitreoretinopathy (FEVR). Peripheral re inal capillary nonper usion
(arrow) in FEVR appears ea ureless.

Familial Exudative Vitreoretinopathy

291

B
FIGURE 7-17. FEVR. A. Clinical pho ograph showing peripheral re inal capillary nonper usion wi h
some in rare inal lipid exuda e (arrow) . B. Corresponding uorescein angiogram documen ing peripheral
nonper usion and areas o neovasculariza ion.

292

7 CO NGENITAL AND PEDIATRIC RETINAL DISEASES

B
FIGURE 7-18. FEVR. A. emporal dragging o he re ina wi h vascular s raigh ening (arrow) . Compare wi h
ROP, Figure 7-8. B. emporal periphery wi h in rare inal lipid, peripheral re inal capillary nonper usion, and
peripheral neovasculariza ion ( arrow) .

Familial Exudative Vitreoretinopathy

FIGURE 7-19. FEVR. Severe rac ional re inal de achmen wi h dragging.

293

294

7 CO NGENITAL AND PEDIATRIC RETINAL DISEASES

COA
C
O A S DISEASE
D IS
SE ASE
E

oa s disease is a unila eral, idiopa hic re inal vascular abnormali y f rs described


by George Coa s in 1908. I is charac erized
by elangiec a ic re inal vascular abnormaliies in associa ion wi h lipid exuda ion. Coa s
disease should be di eren ia ed rom a Coats
response, or a large degree o lipid exuda ion,
which can occur wi h abnormali ies such as
re ini is pigmen osa, diabe ic re inopa hy, re inal venous obs ruc ion, re inal capillary hemangioma, and he la e sequelae o ROP.

EPIDEMIOLOGY
AND ETIOLO GY
Coa s disease is idiopa hic. Mos cases are
diagnosed be ore age 20 wi h he peak incidence a he end o he f rs decade.
I occurs predomina ely in males (85%)
and is almos always uniocular.
T e severi y o he disease varies widely
rom asymp oma ic pa ches o elangiec a ic
vessels in he re inal periphery (Fig. 7-20)
o o al exuda ive re inal de achmen
(Fig. 7-21).

HISTORY
In an s may presen wi h s rabismus, leukokoria, or a red, pain ul eye ( rom neovascular glaucoma).
T e severi y and ra e o progression are
grea es in younger pa ien s (less han 4 years
o age).
Older children and, rarely, adul s may
complain o reduced vision in one eye.

PATHOPHYSIOLOGY
T e re inal vessels become elangieca ic and develop mul iple aneurysmal

abnormali ies. T ese can occur on he re inal


ar erial or venous sides, or bo h.
Marked hard exuda ion is requen ly presen , ex ending rom he re ina in o he subre inal space when i is massive.

IMPORTANT
CLINICAL SIGNS
elangiec a ic vessels, venous dila ion,
microaneurysms, and usi orm capillary dilaion are he hallmark f ndings o Coa s disease (Fig. 7-22).
Progressive exuda ion rom hese re inal
vascular abnormali ies may lead o exuda ive
re inal de achmen .

ASSO CIATED
CLINICAL SIGNS
Pos erior segmen neovasculariza ion is
rare even hough re inal capillary nonper usion is o en presen . Re inal elangiec asis
has been repor ed in associa ion wi h many
o her ocular and sys emic diseases. Re ini is
pigmen osa wi h a Coa s-like response has
been documen ed.
O her en i ies associa ed wi h re inal elangiec asia are Alpor s syndrome, uberous
sclerosis, urners syndrome, SeniorLoken
syndrome, he ich hyosis hys rix varian
o epidermal nevus syndrome, muscular
dys rophy, and ascio-scaspulohumeral
dys rophy.

DIFFERENTIAL DIAGNOSIS
T e di eren ial diagnosis o Coa s disease
depends on he severi y o he disease being
considered.
Childhood disease (leukokoria or exudaive re inal de achmen )
Re inoblas oma

CoatsDisease

Persis en hyperplas ic primary vi reous


(PHPV)/ PFV
ROP
FEVR
Norries disease
Ocular oxocariasis
Von HippelLindau disease
Peripheral exuda ive vi reore inopa hy
Incon inen ia pigmen i (Bloch
Sulzberger syndrome)
Pars plani is
Re ini is pigmen osa wi h Coa s-like
response
Vi reous hemorrhage
Para oveal elangiec asia wi h or wi hou
lipid exuda ion
Diabe ic re inopa hy
Radia ion re inopa hy
Jux a oveal re inal elangiec asia
Branch re inal vein occlusion
Localized elangiec asia wi h ar erial or
venous aneurysms
Re inal cavernous hemangioma
Acquired re inal ar erial
macroaneurysm
Idiopa hic re inal vasculi is, aneurysms,
and neurore ini is (IRVAN)

DIAGNOSTIC EVALUATION
T e diagnosis is usually made hrough
oph halmoscopy; however, uorescein

295

angiography may be help ul in de ec ing


elangiec a ic re inal vascular abnormali ies.
Charac eris ic ligh bulb aneurysmal
dila ions o larger re inal vessels are par icularly obvious on uorescein angiography
(Fig. 7-23). Re inal capillary nonper usion may also be seen wi h uorescein
angiography.
In cases wi h a poor view o he undus,
ul rasonography is help ul and may exhibi a
hyperechoic mass in he pos erior vi reous,
occasionally wi h evidence o vi reous and/ or
subre inal hemorrhage.

PRO GNOSIS AND


MANAGEMENT
Managemen consis s o observa ion;
cryo herapy or laser pho ocoagula ion may be
applied o areas o re inal vascular abnormaliies wi h progressive exuda ion (Fig. 7-24).
Mul iple rea men sessions are o en necessary and close ollow-up is warran ed because
recurrences have been repor ed up o 5 years
a er comple e resolu ion.
Vi rec omy and scleral buckling can be
considered or re inal de achmen , o al
re inal de achmen ypically resul s in
permanen , pro ound vision loss despi e
in erven ion.
Enuclea ion should be considered or
eyes wi h no ligh percep ion and persis en
pain.

296

7 CO NGENITAL AND PEDIATRIC RETINAL DISEASES

B
FIGURE 7-20. Coats disease. A. Peripheral undus o an asymp oma ic pa ien wi h microaneurysms,
in rare inal hemorrhages, and lipid exuda es. B. Pos erior pole o he same pa ien wi h a normal macula.

CoatsDisease

297

FIGURE 7-21. Coats disease. o al exuda ive re inal de achmen .

FIGURE 7-22. Coats disease. Peripheral undus demons ra ing venous dila ion, microaneurysms, subre inal
lipid exuda ion ( arrow), and larger re inal vessels wi h ligh bulb aneurysmal dila ions (inse ) .

298

7 CO NGENITAL AND PEDIATRIC RETINAL DISEASES

FIGURE 7-23. Coats disease. Fluorescein angiogram o he same pa ien as in Figure 7 22 clearly showing
dila ed re inal vessels wi h aneurysmal dila ions.

CoatsDisease

299

B
FIGURE 7-24. Coats disease. A. Peripheral undus showing aneurysmal dila ion and hemorrhage wi h some
exuda ion rom Coa s disease. B. Same area 4 mon hs a er cryo herapy showing involu ion o aneurysms and
resolu ion o hemorrhage and exuda es.

300

7 CO NGENITAL AND PEDIATRIC RETINAL DISEASES

CH
H O RIO
R IO
O RE
R E INAL
I NAL
L
CO
O LO
OB
BO
OM
MA
A

choriore inal coloboma is a developmen al abnormali y caused by ailure o


comple e closure o he embryonic f ssure.

EPIDEMIOLOGY
AND ETIOLO GY
Choriore inal coloboma is a congeni al
developmen al abnormali y. T ere are rare
cases o au osomal-recessive inheri ance.
T e re ina and choroid are absen in areas
a ec ed. A hin in ercalary membrane covers he sclera. T is membrane consis s o
rudimen ary re ina wi h blood vessels. T e
coloboma is loca ed in eriorly, because he
embryonic f ssure is loca ed in eronasally in
he developing eye.

HISTORY
Pa ien s are usually asymp oma ic unless
he op ic nerve or macula are involved or i
here are secondary e ec s.
Re inal breaks may occur in he in ercalary
membrane. Re inal de achmen may hen
occur and cause symp oms.

IMPORTANT
CLINICAL SIGNS
A whi e area (sclera) is visible in he in erior undus o a variable ex en depending on
he size o he de ec (Fig. 7-25).
T e margins o he coloboma are well
def ned.

T ere is o en a pigmen ed border marking


he ransi ion rom he coloboma o he normal re ina and choroid.

ASSO CIATED
CLINICAL SIGNS
T e coloboma may ex end back o he
op ic nerve (Fig. 7-26) and orward o
involve he ciliary body, zonules, and iris.
T e lens may be at ened a he pole corresponding o he coloboma owing o he
missing zonule (Fig. 7-27).

DIFFERENTIAL DIAGNOSIS
Choriore inal scar (e.g., ocular
oxoplasmosis)
Degenera ive myopia

DIAGNOSTIC EVALUATION
Oph halmoscopy usually su ces o make
he diagnosis o choriore inal coloboma.

PROGNOSIS AND
MANAGEMENT
No rea men is necessary unless re inal
de achmen occurs (Fig. 7-28).
Vi rec omy surgery is necessary o manage he re inal de achmen associa ed wi h
choriore inal coloboma. In ernal drainage
hrough he hole in he in ercalary membrane
is per ormed (i he hole can be ound) and
laser pho ocoagula ion is placed around he
margins o he coloboma.

Chorioretinal Coloboma

301

FIGURE 7-25. Chorioretinal coloboma. Choriore inal de ec in he in erior undus.

FIGURE 7-26. Chorioretinal coloboma. Coloboma ous de ec involving he in erior undus and op ic nerve.

302

7 CO NGENITAL AND PEDIATRIC RETINAL DISEASES

FIGURE 7-27. Chorioretinal coloboma. Ex ension o coloboma an eriorly. No e at ening o he in erior pole
o he lens (arrow) due o he missing por ion o he zonule.

Chorioretinal Coloboma

303

B
FIGURE 7-28. Chorioretinal coloboma. Pos erior pole (A) and in eronasal area ( B) o a pa ien wi h
choriore inal coloboma and associa ed rhegma ogenous re inal de achmen .

304

7 CO NGENITAL AND PEDIATRIC RETINAL DISEASES

PERSIS
P
ERS
SI S E
EN
N
H YPE
YPERPLAS
E RPL
L AS IC
C PRIMARY
P RII MA
AR Y
VII R
V
REO
EO U
US/
S/ PE
PERSIS
E R SII S EN
N
FE
F
E AL
AL V
VASCULA
ASCU
U L A URE
UR
RE

re rolen al membrane. T ere is a s alk o issue emana ing rom he op ic disc o he re rolen al area (Fig. 7-30).
O en, an associa ed re inal old is loca ed
in an in erior quadran .

ASSO CIATED
CLINICAL SIGNS

EPIDEMIOLOGY
AND ETIOLO GY

Ca arac and narrow-angle glaucoma may


occur in he an erior orm o PFV i a dehiscence in he lens capsule occurs.
Severe cases may progress o re inal
de achmen and ph hisis bulbi.

HPV was hough o be caused by ailure


o he primary vi reous o regress. Now
he erm PFV has been proposed o in egra e
he f ndings ha occur when here is ailure o
regression o componen s o he e al vessels.

PFV is a rare developmen al abnormali y.


T e condi ion is almos always unila eral
and is more common in males han emales.
An erior and pos erior orms exis , and
bo h may be presen oge her.

DIFFERENTIAL DIAGNOSIS
T e di eren ial diagnosis o he an erior
PFV is ha o leukokoria.
T e di eren ial diagnosis o he pos erior
PFV is ROP, ocular oxocariasis, and FEVR.

HISTORY
In he an erior orm, in an s presen
wi h leukokoria due o a whi e, vascularized
f brous membrane behind he lens.
In he pos erior orm, he eye may be
microph halmic bu he an erior segmen is
o herwise normal. T e in an may presen wi h
leukokoria due o a persis en s alk o issue
rom he op ic nerve o he re rolen al region.

IMPORTANT
CLINICAL SIGNS
In he an erior orm, microph halmia, a
shallow an erior chamber and long ciliary
processes visible hrough he pupil are seen
in associa ion wi h he whi e pupillary re ex
(Fig. 7-29).
In he pos erior orm, he eye may be
microph halmic wi h a clear lens and no

DIAGNOSTIC EVALUATION
Clinical examina ion o he an erior segmen is impor an in es ablishing he diagnosis o PFV. I he an erior segmen is no
a ec ed, he diagnosis o he pos erior PFV
can be es ablished by oph halmoscopy.
Ul rasonography and compu ed omographic (C ) scanning may help di eren ia e
PFV rom re inoblas oma, especially when
he an erior segmen is involved.

PROGNOSIS AND
MANAGEMENT
Pars plana vi rec omy, lensec omy removal
o he f brovascular re rolen al membrane,
and an erior vi rec omy in he an erior PFV
help preven narrow-angle glaucoma, bu
visual resul s are poor.

Persistent Hyperplastic Primary Vitreous/ Persistent Fetal Vasculature

305

FIGURE 7-29. Persistent hyperplastic primar y vitreous (PHP V)/ persistent etal vasculature (PFV).
An erior PHPV/ PFV in a microph halmic eye. No e he whi e re ex due o vascularized membrane behind he
lens and ciliary processes dragged in oward he cen er.

306

7 CO NGENITAL AND PEDIATRIC RETINAL DISEASES

FIGURE 7-30. PHPV/ PFV. Ex ernal view o pos erior PHPV/ PFV. No e ermina ion o he s alk o issue on
he pos erior sur ace o he lens. Ciliary processes are no dragged in oward he cen er.

JuvenileX-Linked Retinoschisis

JUV
JUVEN
VEN
N ILE
E X-LIN
X-L
L IN
N KED
KED
D
RE
E IN
NO
OSCH
SC
C H IISIS
SIS
S

uvenile X-linked re inoschisis is a herediary disorder charac erized by di use


re inal dys unc ion wi h a s ella e macula in
all cases and split ing o he nerve f ber layer
in 50% o cases.

EPIDEMIOLOGY
AND ETIOLO GY
Juvenile X-linked re inoschisis is a bila eral inheri ed disorder occurring in males.
Linkage s udies have localized he re inoschisis gene o he dis al shor arm o he X chromosome (Xp22.1p22.3).
T e elec rore inographic abnormali ies
implica e Mller cell dys unc ion.

HISTORY
Pa ien s may presen wi h reduced vision
rom he macular changes.
Earlier presen a ion occurs due o rou ine
examina ion o amily members wi h a amily
his ory o he disease.
In pa ien s wi h severe peripheral involvemen , vi reous hemorrhage resul ing rom
rup ure o unsuppor ed re inal vessels in he
eleva ed nerve f ber layer may cause abrup
loss o vision.

IMPORTANT
CLINICAL SIGNS
Foveal schisis is presen in all cases and
appears as a s ella e maculopa hy on oph halmoscopic examina ion (Fig. 7-31). T e s ella e appearance o en gives way o ill-def ned

307

re inal pigmen epi helial al era ions in older


pa ien s.
Peripheral re inoschisis is presen in
50% o pa ien s (Fig. 7-32). I is mos
common in eriorly and is a he level o he
nerve iber layer. O en, breaks occur in he
eleva ed nerve iber layer leaving unsuppor ed re inal vessels ha can rup ure,
causing vi reous hemorrhage (Fig. 7-33).
Breaks can occur in he inner layer causing
rhegma ogenous re inal de achmen
(Fig. 7-34).

ASSO CIATED
CLINICAL SIGNS
Less common indings include rac ion
or exuda ive re inal de achmen , ex ension o he re inoschisis in o he macula,
macular ec opia wi h nasal or emporal
dragging, hyperme ropia, ca arac , and
s rabismus.

DIFFERENTIAL DIAGNOSIS
ROP
GoldmannFavre disease
Re ini is pigmen osa
FEVR

DIAGNOSTIC EVALUATION
T e s ella e macula is o en bes seen wi h
red- ree illumina ion. Al hough i has he
appearance o cys oid macular edema, here is
no leakage o dye on uorescein angiography.
Elec rore inography is use ul because pa ien s
ypically have selec ive loss o he b-wave.
Examina ion o amily members, some
o whom may have he disease, may aid in
diagnosis.

308

7 CO NGENITAL AND PEDIATRIC RETINAL DISEASES

PROGNOSIS AND
MANAGEMENT
T ere is no rea men or he macular
aspec s o he disease.
Vi rec omy can be per ormed or nonclearing vi reous hemorrhage.

Re inal de achmen repair can be


at emp ed wi h scleral buckling or vi rec omy
echniques.
Gene ic counseling should be o ered.

Juvenile X-Linked Retinoschisis

309

B
FIGURE 7-31. Juvenile X linked retinoschisis. A. Foveal schisis. B. High power image o oveal schisis; no e
radia ing re inal s riae.

310

7 CO NGENITAL AND PEDIATRIC RETINAL DISEASES

FIGURE 7-32. Juvenile X linked retinoschisis. Highly bullous peripheral re inoschisis.

Juvenile X-Linked Retinoschisis

311

FIGURE 7-33. Juvenile X linked retinoschisis. In erior re inoschisis wi h large breaks ( arrow) and
unsuppor ed re inal vessels ( *).

FIGURE 7-34. Juvenile X linked retinoschisis. Rhegma ogenous re inal de achmen in a pa ien wi h juvenile
X linked re inoschisis. No e he s ella e appearance in he macula due o oveal schisis.

312

7 CO NGENITAL AND PEDIATRIC RETINAL DISEASES

LEB
LEBERS
BE RS CO
O N GEN
G E N I AL
L
AMAUROSIS
A
MA
AUR
R O SIS

ebers congeni al amaurosis is a group


o diseases charac erized by severe loss
o vision rom bir h associa ed wi h nys agmus and severely impaired elec rore inogram
(ERG) responses or bo h rods and cones.

EPIDEMIOLOGY
AND ETIOLO GY
Lebers congeni al amaurosis is a herediary disease mos commonly inheri ed as an
au osomal-recessive rai .
Several gene ic de ec s have been
iden if ed.

ASSO CIATED
CLINICAL SIGNS
Many children are highly hyperopic.
Older children may develop ca arac s and
kera oconus.

DIFFERENTIAL DIAGNOSIS
Albinism
Congeni al s a ionary nigh blindness
Achroma opsia

DIAGNOSTIC EVALUATION

Pa ien s usually presen because o nysagmus or s rabismus; however, paren s may


be concerned earlier ha he in an does no
recognize aces.

Fundus examina ion is o en no


help ul because in an s may have a normalappearing undus. Ar eriolar a enua ion,
op ic nerve pallor, and pigmen ary degenera ion may occur la er in childhood
(Fig. 7-35).
Elec rophysiologic es ing is necessary o
es ablish a diagnosis. T e ERG is ypically
minimal or ex inguished.

IMPORTANT
CLINICAL SIGNS

PROGNOSIS AND
MANAGEMENT

HISTORY

T e undi are usually normal. Horizon al


nys agmus is presen .

T ere is no rea men available.

Lebers Congenital Amaurosis

313

FIGURE 7-35. Lebers congenital amaurosis. Fundus o an older child demons ra ing one o he la e
pat erns o Lebers congeni al amaurosis. No e pigmen ary re inopa hy and macular coloboma, choriore inal
degenera ion in he macula.

C H AP

ER

rauma ic and oxic Re inopa hies


J. Luigi Borrillo and Carl D. Regillo

CO
O MMOT
MM
M
M OT
O T IO
O RET
RE
ET
T IN
INAE
A
AE

ommo io re inae is re inal whi ening ha


occurs a er blun ocular rauma. T is
ransien condi ion a ec s he ou er re ina.
O en he damage incurred o he pho orecepors is reversible.

EPIDEMIOLOGY
S a is ically he condi ion is mos common in young males.

HISTORY
Pa ien s have a his ory o blun ocular
rauma.

CLINICAL SIGNS
T e condi ion is usually asymp oma ic.
Decreased vision may occur wi h macular
involvemen . T e re ina appears whi ened,
while he re inal vascula ure remains una ec ed. T e re ina regains i s normal appearance wi hin weeks (Fig. 8-1). Occasionally,
changes o he re inal pigmen epi helium
(RPE), such as s ippling or clumping, may be
seen a er he re inal whi ening resolves.
314

Be mind ul o o her f ndings seen in


rauma such as hyphema or microhyphema,
choroidal rup ure, re inal hemorrhage, re inal
dialysis, avulsed vi reous base, and vi reous
hemorrhage.

DIFFERENTIAL DIAGNOSIS
O her en i ies ha may mimic commo io
re inae include branch re inal ar ery occlusion, whi e-wi hou -pressure, and shallow
re inal de achmen .

DIAGNOSTIC EVALUATION
Diagnosis is based on clinical examina ion.
Op ical coherence omography (OC )
may demons ra e increased re ec ivi y
in areas o damaged pho orecep or ou er
segmen s.

PROGNOSIS AND
MANAGEMENT
Re inal whi ening resolves wi hou visual
compromise. However, permanen visual acui y loss can some imes occur i macular re inal
pigmen epi helial disrup ion is presen .

Commotio Retinae

315

B
FIGURE 8-1. Commotio retinae. A. Commo io re inae: Ou er re inal whi ening in he pos erior pole af er
blun rauma. B. Ou er re inal whi ening in he peripheral re ina.

316

RAUMA IC AND

OXIC RE INO PA HIES

CH O RO
O IDAL
ID
D AL RUPT
RU
U PT
T URE
U RE
E

n his injury, disrup ion o he choriocapillaris and Bruchs membrane occurs secondary o rauma ic ocular compression. Rup ures
loca ed in he pos erior pole are concen ric o
he op ic disc. T ese breaks are o en associa ed wi h subre inal and subre inal pigmen
epi helial hemorrhage.

EPIDEMIOLOGY
AND ETIOLO GY
Choroidal rup ure occurs as a resul o
rauma, mos commonly in young males.

HISTORY
Pa ien s have a his ory o blun ocular
rauma.

CLINICAL SIGNS
T e charac eris ic f nding is subre inal
hemorrhage, wi h whi ish, crescen -shaped
lesions around he op ic disc (Fig. 8-2A).
In he acu e set ing, choroidal rup ures may
be associa ed wi h o her f ndings rom blun
ocular rauma such as hyphema, iris sphinc er

rup ures, commo io re inae, vi reous hemorrhage, re inal ears, re inal dialysis, and orbi al
rac ures.
La er, choroidal neovasculariza ion
(CNV) may occur a he edge o he rup ure
si e (Fig. 8-2B).

DIFFERENTIAL DIAGNOSIS
Myopic lacquer cracks and angioid s reaks
may have a similar appearance.
O her causes o subre inal hemorrhage
include CNV, re inal ar erial macroaneurysm,
Valsalva re inopa hy, and anemia.

DIAGNOSTIC EVALUATION
Diagnosis is based on clinical examina ion.

PROGNOSIS AND
MANAGEMENT
Visual prognosis depends on he loca ion
o he choroidal rup ure wi h respec o he
ovea and any associa ed subre inal or subre inal pigmen epi helial hemorrhage.
Secondary CNV can occur a any ime during he ollow-up period and can cause visual
acui y loss.

Choroidal Rupture

317

B
FIGURE 8-2. Choroidal rupture. A. Choroidal rup ure: Crescen -shaped lesion in he macula wi h subre inal
hemorrhage (inse ). B. Chronic choroidal rup ure: Yellow crescen -shaped rup ure si e wi h pigmen ed
choroidal neovasculariza ion ( arrow) and associa ed subre inal uid in he ovea.

318

RAUMA IC AND

OXIC RE INO PA HIES

AVULSED
A
VUL
L SED
D VIT
VIT
T REO
O US
S BASE
E

his en i y describes separa ion o he vi reous base a he ora serra a ha occurs


secondary o rauma. Some imes he avulsed vi reous base can be seen oa ing in he periphery.

EPIDEMIOLOGY
AND ETIOLO GY
T e injury occurs as a resul o rauma,
usually in young males.

HISTORY
Pa ien s have a his ory o blun ocular
rauma.

CLINICAL SIGNS
A semi ransparen , some imes pigmen ed,
curvilinear ribbon-like s ruc ure may or may
no be comple ely separa ed rom he re inal
periphery (Fig. 8-3).
T e presence o an avulsed vi reous base is
pa hognomonic or ocular rauma.

An avulsed vi reous base may be associa ed wi h hyphema, iris sphinc er ears, commo io re inae, vi reous hemorrhage, re inal
ears, re inal dialysis, or orbi al rac ures.

DIFFERENTIAL DIAGNOSIS
Avulsed vi reous base should be dis inguished rom re inal dialysis.
O her en i ies ha may mimic his condiion include old vi reous hemorrhage.

DIAGNOSTIC EVALUATION
Diagnosis is based on binocular indirec
oph halmoscopy wi h scleral depression.

PROGNOSIS AND
MANAGEMENT
No rea men is necessary. Pa ien s
should be observed or he subsequen
developmen o rauma-rela ed ocular
problems such as re inal breaks and anglerecession glaucoma.

FIGURE 8-3. Avulsed vitreous base. Nasal avulsed vi reous base ( arrow) is pa hognomonic or prior rauma.

Solar Maculopathy

SO
S
OL
LAR
AR M
MACULO
AC
C U LO
O PAT
PA
AT H Y

olar maculopa hy is he visual loss resul ing


rom oveal pho orecep or and re inal pigmen epi helial damage as a consequence o sungazing or direc observa ion o a solar eclipse.

EPIDEMIOLOGY
T ere is a rend or higher incidence
in areas where a solar eclipse was direc ly
observable. Solar maculopa hy is more common among individuals involved in sunworshiping religious groups. Loss o he ozone
layer has been associa ed wi h solar re inopahy among sunba hers in he Uni ed S a es.

HISTORY
Pa ien s have a his ory o sungazing.

CLINICAL SIGNS
T ere is an abnormal oveal re ex.
O en, a sharply demarca ed yellow or reddish spo is visible in he ovea (Fig. 8-4).

319

Re inal pigmen epi helial changes ( ocal


hyperpigmen a ion) may be eviden in he
oveal or para oveal area a la er s ages.

DIFFERENTIAL DIAGNOSIS
Pseudomacular hole, pho ic maculopa hy,
and macular dys rophy or degenera ion may
have a similar appearance.

DIAGNOSTIC EVALUATION
Diagnosis is based on clinical examina ion.
Fluorescein angiography will reveal nonspecif c re inal pigmen epi helial window
de ec s cen ered on he ovea.
OC may demons ra e disrup ion o oveal
inner and ou er pho orecep or segmen s.

PROGNOSIS AND
MANAGEMENT
Good visual recovery occurs in mos
pa ien s, bu i may ake weeks or mon hs or
vision o improve.
No rea men is needed.

A
FIGURE 8-4. Solar retinopathy. A. Color undus pho ograph demons ra ing deep yellow oveal lesion (inse ) .
( continued)

320

RAUMA IC AND OXIC RE INO PA HIES

C
FIGURE 8-4. ( Continued) Solar retinopathy. B. Corresponding uorescein angiogram pho ograph
demons ra ing oveal window de ec . C. Acu e solar re inopa hy wi h yellow oveal lesion and hemorrhage.
Visual acui y is 20/ 30. ( B, Cour esy o Dr. Alexander J. Brucker.)

Valsalva Retinopathy

VALSALVA
V
ALS
SALV
VA RE
RET
ET IN
NOP
PAT
AT
THY

321

DIFFERENTIAL DIAGNOSIS

Re inal macroaneurysm, diabe ic re inopa hy, venous occlusion, anemia, an icoagulan herapy, re inal ear, or pos erior
vi reous de achmen wi h associa ed hemorrhage may mimic he f ndings o Valsalva
re inopa hy.

EPIDEMIOLOGY

DIAGNOSTIC EVALUATION

T e condi ion can occur in persons o any


age.

Diagnosis is based on clinical examina ion.


B-scan ul rasonography is per ormed o
evalua e or underlying re inal de achmen
or re inal ear in he set ing o dense vi reous
hemorrhage.
OC may demons ra e hemorrhage
undernea h re ec ive signal o he in ernal
limi ing membrane.

n Valsalva re inopa hy, unila eral or bila eral


re inal or prere inal hemorrhage occurs as a
resul o an acu e episode o increased in ra horacic pressure. Superf cial capillaries rup ure
secondary o a sharp rise in ocular in ravenous
pressure.

HISTORY
Pa ien s usually have a his ory o recen
s renuous physical exer ion, coughing, vomi ing, or s raining (e.g., wi h cons ipa ion).

CLINICAL SIGNS
Single or mul iple in rare inal hemorrhages (o en undernea h he in ernal limi ing
membrane) are no ed in he pos erior pole
(Fig. 8-5). T ere may be a decrease in visual
acui y when he hemorrhage is localized in or
over he oveal region.
Subconjunc ival hemorrhage may be associa ed wi h his condi ion. Signif can vi reous
hemorrhage is rare.

PROGNOSIS AND
MANAGEMENT
T e visual prognosis is good.
Managemen consis s o observa ion,
only, in mos cases. Hemorrhages will resolve
spon aneously.
Vi rec omy may be considered or nonclearing vi reous hemorrhage (bu is rarely
indica ed).

322

RAUMA IC AND OXIC RE INO PA HIES

FIGURE 8-5. Valsalva retinopathy. Mul iple super cial re inal hemorrhages in he macula.

Shaken Baby Syndrome

SH
S
H AK
AKEN
KE N B
BABY
ABY
YS
SYN
YN
N DRO
D RO
O ME
ME

his condi ion re ers o in raocular hemorrhages in in an s or young children


secondary o child abuse. T e f ndings are
associa ed wi h decreased visual acui y and
increased mor ali y.

EPIDEMIOLOGY
T e condi ion is mos common in in an s
and oddlers.

HISTORY
Recen ly, o en mul iple episodes o violen shaking o he in an precede f ndings,
al hough i is o en di cul o ob ain a his ory
o abuse rom he care aker. Care akers may
re use diagnos ic evalua ion.

CLINICAL SIGNS
Subre inal, in rare inal, or prere inal
hemorrhages are no ed in one or (more commonly) bo h eyes (Fig. 8-6A). T e prere inal
hemorrhages are ypically globular as opposed
o a (Fig. 8-6B). O her signs include poor
visual or pupillary response. No single ocular
f nding is pa hognomonic.
Ecchymosis, long bone and rib rac ures,
le hargy, or developmen al delay are common
associa ed f ndings. O en he child has physical f ndings ha do no ma ch he repor ed
mechanism o he injuries.

DIFFERENTIAL DIAGNOSIS
Bir h rauma: In rare inal hemorrhages
may be seen in newborns, especially wi h
he use o orceps in he delivery. T ese

323

hemorrhages resolve over he course o weeks


and are o en no associa ed wi h neurologic
sequelae.
Leukemia and in raocular in ec ions may
also mimic he ocular f ndings o shaken baby
syndrome.

DIAGNOSTIC EVALUATION
Clinical examina ion: Evalua ion or
delayed neurologic developmen and sysemic signs o child abuse
Head C o evalua e or in racranial
hemorrhage
Bone scan is more sensi ive in de ec ing
rac ures and exposes he child o less radiaion while providing a whole body skele al
survey. Bone scan f ndings may ailor subsequen x-ray s udies.
X-ray s udies: Frac ures a di eren s ages
o healing, leg rac ures prior o bipedal
ambula ion (prior o 12 mon hs o age), and
pos erior rib rac ures are highly suspicious
or child abuse.
Op ical coherence omography: Prere inal
hemorrhage, vi reore inal rac ion, and
hemorrhagic macular re inoschisis may be
observed.

PROGNOSIS AND
MANAGEMENT
A pedia ric consul a ion should be considered o evalua e or child abuse. T e
prognosis is largely dependen on associa ed
brain injury. Poor pupillary response, poor
visual acui y, and re inal hemorrhages have
been associa ed wi h high in an mor ali y.
Conversely, he presence o good visual acui y
and normal pupillary re exes are associa ed
wi h a bet er prognosis.

324

RAUMA IC AND OXIC RE INO PA HIES

B
FIGURE 8-6. Shaken baby syndrome. A. Mul iple in rare inal and prere inal hemorrhages in he pos erior
pole. B. No e he globular na ure ( arrows) o he prere inal hemorrhage in shaken baby syndrome. ( A, Cour esy
o Dr. Richard Spaide.)

ersons Syndrome

T ERSO
ER
R SO N S S
SYN
YN D
DRO
R O ME
E

ersons syndrome encompasses any in raocular (usually prere inal or vi reous)


hemorrhage associa ed wi h ei her raumainduced or spon aneous acu e in racranial
bleeding.

EPIDEMIOLOGY
AND ETIOLO GY
T e syndrome may a ec individuals o
any age.
T e sudden increase in in racranial pressure direc ly or indirec ly rup ures he peripapillary capillaries.

HISTORY
T e presen a ion may include severe headache or known acu e neurologic even .

CLINICAL SIGNS
Pa ien s may have varying degrees o
decreased visual acui y and mul iple, usually bila eral, re inal hemorrhages (Fig 8-7).
Vi reous hemorrhage can also occur and may
be dense.
O her ocular signs associa ed wi h ersons
syndrome include cranial nerve palsies, la eappearing epire inal membrane, or rac ional
re inal de achmen .
T e in racranial hemorrhages are usually loca ed in he subarachnoid space.

325

Spon aneous hemorrhages are a resul o vascular abnormali ies such as aneurysms, ar eriovenous mal orma ions, or f s ulas.

DIFFERENTIAL DIAGNOSIS
Pos erior vi reous de achmen wi h vi reous hemorrhage, re inal vein occlusion,
re inal ear, proli era ive diabe ic re inopa hy,
Valsalva re inopa hy, or re inal ar erial macroaneurysm may mimic ersons syndrome.

DIAGNOSTIC EVALUATION
Neuroimaging is per ormed, using
compu ed omography (C ) or magne ic
resonance imaging (MRI). B-scan ul rasonography is used o evalua e or re inal
de achmen or re inal ear in cases where
vi reous hemorrhage precludes a view o he
pos erior segmen . Op ical coherence omography f ndings may be similar o Valsalva
re inopa hy.

PROGNOSIS AND
MANAGEMENT
T e visual prognosis is o en good.
T ere can be a high mor ali y ra e depending on he loca ion and severi y o he in racranial hemorrhage.
Neurosurgical consul a ion is
recommended.
In cases o bila eral vi reous hemorrhage
or dense nonclearing vi reous hemorrhage,
vi rec omy may be considered.

326

RAUMA IC AND OXIC RE INO PA HIES

B
FIGURE 8-7. ersons syndrome. A. Mul iple re inal and prere inal hemorrhages in he pos erior pole o a
pa ien who has su ered an acu e subarachnoid hemorrhage. B. More severe re inal hemorrhaging and vi reous
hemorrhage in Tersons syndrome.

Purtschers Retinopathy

PURTSCH
P
UR
RT SC H ERS
ER
RS
RET
R
ET
T IN
I N O PAT
PAT H Y

ur schers re inopa hy describes decreased


vision associa ed wi h in rare inal hemorrhages and pa ches o re inal whi ening secondary o severe crushing injuries o he orso
or head. T e undus f ndings are concen ra ed
in he peripapillary area and may be unila eral
or bila eral.

EPIDEMIOLOGY
AND ETIOLO GY
Persons o any age may be a ec ed.
Endo helial damage leads o in ravascular
coagulopa hy and granulocy ic aggrega ion
wi h microemboli orma ion.

HISTORY
T ere is a his ory o compressive rauma.

CLINICAL SIGNS
Acu ely, severe vision loss is no ed in one
or bo h eyes.
Cot on-wool spo s cen ered on he op ic
disc, hemorrhages, exuda es, and re inal
edema are o en seen.
Fundus f ndings resolve over several weeks
(Fig. 8-8A).
Op ic a rophy may be a la e f nding.

327

DIFFERENTIAL DIAGNOSIS
T is condi ion should be dis inguished
rom Pur schers-like re inopa hy, which has
a similar undus presen a ion associa ed wi h
microemboli o various composi ions rom a
wide spec rum o sys emic condi ions such
as pancrea i is, amnio ic uid embolism, collagen vascular disease, hrombo ic hrombocy openic purpura, and long bone rac ures
(Fig. 8.8B).
Cen ral re inal ar ery and vein occlusion
may also mimic he f ndings o Pur schers
re inopa hy.

DIAGNOSTIC EVALUATION
C imaging o ches and long bones is perormed, when indica ed.
Fluorescein angiography ypically reveals
areas o re inal ischemia.
Op ical coherence omography reveals
edema o he nerve f ber layer and subre inal
uid.

PROGNOSIS AND
MANAGEMENT
Permanen visual loss may occur in hal
o he a ec ed pa ien s. No rea men is
available.

328

RAUMA IC AND OXIC RE INO PA HIES

B
FIGURE 8-8. Purtscher s retinopathy. A. Mul iple peripapillary cot on-wool spo s cen ered around he op ic
disc in a pa ien wi h massive ches rauma. B. Mul iple cot on-wool spo s, hemorrhage, and macular in arc ion
in a man wi h S ills disease.

raumatic Macular Hole

TR
RAUMAT
AU MA
AT IC
IC
MACULAR
M
AC U LA
AR H O LE
E

his en i y describes a ull- hickness macular hole occurring a er blun ocular


rauma.

EPIDEMIOLOGY
AND ETIOLO GY
Persons o any age may be a ec ed.
T e oveal de ec develops as a resul o
vi reous rac ion or con usion necrosis o he
re ina and may be a direc consequence o
globe de orma ion.

HISTORY
T ere is a his ory o recen blun rauma or
whiplash injury.

329

T e presence o a pos erior vi reous


de achmen is unlikely.

DIFFERENTIAL DIAGNOSIS
Solar re inopa hy
Non rauma ic macular hole
Pseudohole secondary o epire inal
membrane

DIAGNOSTIC EVALUATION
Care ul con ac lens biomicroscopy is
indica ed.
Fluorescein angiography may reveal a
hyper uorescen spo a he ovea corresponding o a re inal pigmen epi helial de ec .
Op ical coherence omography will reveal
ull- hickness neurosensory re inal loss in he
ovea.

CLINICAL SIGNS

PROGNOSIS AND
MANAGEMENT

A ull- hickness macular hole wi h


irregular border is seen on clinical examinaion. Macular pigmen ary changes are o en
observed (Fig. 8-9), as well as a posi ive
Wa zkeAllen sign.
O her associa ed signs may include submacular hemorrhage, choroidal rup ure,
commo io re inae, or vi reous
hemorrhage.

T e visual prognosis is variable.


Spon aneous closure o rauma ic macular
holes in young pa ien s has been repor ed in
he li era ure bu is rare.
A recen series sugges s ha he macular hole surgery may be benef cial, wi h a
repor ed visual acui y o 20/ 50 or bet er in
64% o pa ien s.

330

RAUMA IC AND OXIC RE INO PA HIES

B
FIGURE 8-9. raumatic macular hole. A. Small, irregular ull- hickness macular hole (inse ) and associa ed
macular re inal pigmen epi helial clumping. B. Larger, irregular rauma ic macular hole (inse ) wi h marked
re inal pigmen epi helial al era ions and a choroidal rup ure (arrow) in erior o he op ic disc.

Chorioretinitis Sclopetaria

CH
H O RIO
R IO RET
R ET IN
N IT
T IS
S
SCLO
SC
C L O PETARIA
P ET ARII A

horiore ini is sclope aria is ull- hickness


disrup ion o he choroid and re ina secondary o he concussive orces o a nonpene ra ing high-veloci y projec ile.

EPIDEMIOLOGY
AND ETIOLO GY
T e injury is mos common in young
males.
raveling a high speeds, he projec ile crea es shock waves ha can rup ure choroid and
re ina bu leave sclera in ac . T e de ec s are
subsequen ly replaced by f brous issue.

HISTORY
Pa ien s have a his ory o a high-veloci y
projec ile, such as a BB pelle , o he orbi .

CLINICAL SIGNS
T e visual acui y is variable. Acu ely, here
may be prere inal, in rare inal, or subre inal
hemorrhage as well as vi reous hemorrhage
(Fig. 8-10A). Subsequen ly, lesions have a
claw-like branching pat ern (Fig. 8-10B).
Bare sclera may be visible hrough he ullhickness de ec s o he choroid and overlying re ina. Sclope aria is usually loca ed in
he peripheral undus, corresponding o he

331

pa h o he projec ile. O en hese areas are


covered by hemorrhage.
Fibrous proli era ion a he rup ure si es
even ually ensues and becomes visible as any
associa ed hemorrhage clears. In raorbi al oreign body is o en presen .

DIFFERENTIAL DIAGNOSIS
A rup ured globe should be ruled ou .
Choroidal rup ures may demons ra e a
similar appearance as sclope aria, bu hey are
usually loca ed in he pos erior pole.

DIAGNOSTIC EVALUATION
C imaging is impor an o evalua e he
in egri y o he globe, de ec any associa ed
orbi al or cen ral nervous sys em injuries, and
iden i y any orbi al oreign bodies.

PROGNOSIS AND
MANAGEMENT
Visual prognosis is dependen on he
loca ion o sclope aria. Lesions involving he
macular region have poorer visual acui y.
Ini ial managemen is nonsurgical.
T e subsequen cica ricial process o en
uses issues, making re inal de achmen s
unlikely. Surgery is indica ed in he subsequen developmen o re inal de achmen
or or he removal o nonclearing vi reous
hemorrhage.

332

RAUMA IC AND OXIC RE INO PA HIES

B
FIGURE 8-10. Chorioretinitis sclopetaria. A. Re inal whi ening and prere inal hemorrhage in he pos erior
pole o a pa ien sus aining an orbi al oreign body injury. B. Claw-like choriore inal scarring af er a high-veloci y
bulle passed hrough he orbi adjacen o he eye.

Intraocular Foreign Body

333

IIN
NTR
RAO
AO
O CULAR
CU
U L AR
FO
F
OR
REIGN
E IG
G N BO
OD
DY
Y

end o produce mild in amma ion. Glass,


carbon, porcelain, silver, and pla inum are
iner .

DIFFERENTIAL DIAGNOSIS

n raocular oreign body (IOFB) re ers o


he presence o a oreign body in he eye
rom a pene ra ing injury.

EPIDEMIOLOGY
AND ETIOLO GY
Young males are mos commonly a ec ed.
T e oreign body may serve as a nidus
or endoph halmi is or severe in amma ory
reac ion.
An IOFB may also cause delayed e ec s
secondary o proli era ive vi reore inopa hy
or oxici y.

HISTORY
Mos o en here is a his ory o pene ra ing
ocular injury.
A oreign body sensa ion associa ed wi h
hammering, grinding, or o her mechanism
o injury may also be elici ed. Injury in a
rural set ing increases he risk o secondary
endoph halmi is.

CLINICAL SIGNS
Visual acui y is variable. An obvious or
sub le poin o en ry o he IOFB may be seen
(Fig. 8-11A). O her signs associa ed wi h
IOFBs include sec orial microcys ic corneal
edema, irregular pupil, ransillumina ion iris
de ec , low in raocular pressure, in raocular
in amma ion, or vi reous hemorrhages. La er
f ndings include endoph halmi is, he erochromia, ca arac , or corneal deposi s.
Subs ances such as vege able, iron, copper,
and s eel may lead o in ense in amma ion
or in ec ion. Nickel, aluminum, and mercury

Endoph halmi is and uvei is may mimic


he f ndings o IOFB.

DIAGNOSTIC EVALUATION
Orbi al C is he imaging modali y o
choice in de ec ing nonorganic IOFBs. Small
organic oreign bodies such as wood or vege able mat er may escape de ec ion.
B-scan ul rasonography may de ec
IOFBs, re inal ears, or re inal de achmen s
when he pos erior pole canno be visualized
(Fig. 8-11B).
Serial elec rore inograms should be considered or re ained me allic oreign bodies o
evalua e or oxic me allosis.

PROGNOSIS AND
MANAGEMENT
Prognosis is largely dependen on he
loca ion and na ure o he IOFB. Repair
o he rup ured globe should be he f rs
priori y. Promp removal o he IOFB via
pars plana vi rec omy be ore 24 hours has
been ound o decrease he incidence o
endoph halmi is.
Considera ions in he managemen o
IOFBs include he ollowing:
Always consider an IOFB masquerade
syndrome in he set ing o unila eral unexplained uvei is.
A C scan wi h 1-mm sec ions hrough
he globe and orbi is he bes single imaging scan. MRI may be superior or imaging
wood and organic ma erial.

334

RAUMA IC AND OXIC RE INO PA HIES

Copper, iron, and s eel produce he


mos in ense in raocular in amma ory
response.
Surgical removal o in raocular oreign bodies is considered emergen and
should be per ormed as soon as possible.
Endoph halmi is associa ed wi h IOFBs is
es ima ed up o 20%.

Promp surgical removal is recommended


or vege able, copper, iron, s eel, or iner subs ances wi h oxic chemical coa ings. Surgical
ex rac ion o cer ain me allic IOFBs may be
acili a ed by a magne .
Sys emic and in ravi real an ibio ics
should be adminis ered when here is a high
index o suspicion or endoph halmi is.

Intraocular Foreign Body

335

B
FIGURE 8-11. Intraocular foreign body. A. Me allic oreign body in he re inal periphery. B. B-scan
ul rasonography demons ra ing acous ic shadowing ( arrow) behind he in raocular oreign body.

336

RAUMA IC AND

OXIC RE INO PA HIES

DISLO
DI
I SLO
O CAT
C AT ED
D LEN
LE N S

his erm describes he o al displacemen


o he na ive lens in o he an erior chamber or he vi reous cavi y as a resul o lens
zonular disrup ion.

EPIDEMIOLOGY
T e condi ion is mos common in young
males in he set ing o rauma. Individuals
wi h a amilial or me abolic predisposi ion
o zonular weakness are also prone o lens
disloca ion.

HISTORY
T ere is usually a his ory o blun ocular
rauma. O en, he pa ien no es a drama ic
decrease in visual acui y because o lens
malposi ion.

CLINICAL SIGNS
T ere is decreased vision, and he na ural
lens is seen in he an erior chamber or pos erior
pole (Fig. 8-12). O her signs associa ed wi h
lens disloca ion may include iridodonesis, irregular an erior chamber dep h, eyelid ecchymosis,
vi reous hemorrhage, or orbi al rac ures.
T e pa ien may have a physical habi us
compa ible wi h predisposing condi ions
such as Mar ans syndrome or Weill
Marchesani syndrome, among o hers.

DIFFERENTIAL DIAGNOSIS
Condi ions o her han severe blun rauma
ha predispose pa ien s o lens disloca ion
include:
Mar ans syndrome: Pa ien s are
o en all and may have arachnodac yly.

Cardiac evalua ion is impor an in


evalua ion or aor ic aneurysm or
insu ciency.
WeillMarchesani syndrome: A ec ed
individuals have shor s a ure, seizures,
microspherophakia, brachydac yly, and
may have decreased hearing.
Homocys inuria: Pa ien s may have
mar anoid ea ures, hrombosis (especially
wi h general anes hesia), and belowaverage IQ.
O her: Syphilis, sulf e oxidase def ciency, high myopia, EhlersDanlos
syndrome, and aniridia are o her possible
e iologies o lens disloca ion.

DIAGNOSTIC EVALUATION
B-scan ul rasonography is used in
he set ing o vi reous hemorrhage o
evalua e or lens posi ion and re inal
de achmen .
Medical consul a ion is appropria e
i Mar ans syndrome, homocys inuria,
syphilis, or ano her predisposing condi ion is
suspec ed.

PROGNOSIS AND
MANAGEMENT
Conserva ive managemen such as
observa ion and con ac lens wear may be
considered. Managemen o disloca ion o
he na ural lens in o he an erior chamber
causing glaucoma may include a rial o
pupillary dila ion and supine posi ioning
in an at emp o disloca e he lens in o he
vi reous cavi y.
A lens ha canno be reposi ioned in o
he vi reous cavi y or ha has a disrup ed
lens capsule may require vi rec omy and
lensec omy.

Dislocated Lens

337

FIGURE 8-12. Dislocated lens. In ac na ive lens in he vi reous over a glaucoma ous op ic disc. (Cour esy o
he Wills Eye Hospi al collec ion, Philadelphia, Pennsylvania.)

338

RAUMA IC AND

OXIC RE INO PA HIES

TALC
TAL
T
LC R
RET
ET IN
N O PA
PAT
AT H Y

alc re inopa hy describes he presence


o an in rare inal, yellow, re rac ile subs ance in pa ien s who abuse in ravenous
drugs, especially hose using produc s made
rom crushed able s or powder.

EPIDEMIOLOGY
AND ETIOLO GY
T e condi ion can occur in persons o any
age.
T e alc componen o he injec ed medica ion migra es hrough microvascular venular o ar eriolar shun s in he lungs and in o
he re inal ar erioles.

HISTORY
Pa ien s have a his ory o chronic in ravenous drug abuse. A his ory o in ravenous injec ion o crushed me hylphenida e
(Ri alin) able s may be elici ed.

CLINICAL SIGNS
Irregular re rac ile elemen s are seen
hroughou he re ina (in ravascular space),
especially wi hin he macula (Fig. 8-13).
O her in raocular signs ha may be seen
include neovasculariza ion o he re inal
periphery (or op ic nerve), macular pucker or
f brosis, or vi reous hemorrhage.
Inspec ion o he skin may reveal evidence
o in ravenous drug abuse.

DIFFERENTIAL DIAGNOSIS
T e di eren ial diagnosis or alc re inopahy includes o her causes o crys alline re inopa hy such as:

Can haxan hin oxici y: Pa ien s may


volun eer a his ory o using oral anning
agen s. T e o al cumula ive dosage usually
exceeds 19 g.
amoxi en (Nolvadex) use: O en here
is a his ory o breas cancer and use o he
an ies rogen agen or a cumula ive dosage
o a leas 7.7 g.
Re inal emboli associa ed wi h caro id
obs ruc ive disease or cardiac valve
disease. Caro id ul rasonography or
cardiac echography may reveal he embolic
source.
In rare inal crys als
alc par icles (in ravenous drug abuse)
Choles erol (Hollenhors plaque) or
o her emboli
Can haxan hin inges ion (oral anning
agen )
amoxi en
Me hoxy urane anes hesia
Cys inosis
Para oveal elangec asia (Singermans
do s)
In rare inal lipid (hard exuda es)
Subre inal crys als (o en associa ed wi h
RPE al era ions)
Calcif ed drusen
Biet is corneal and macular crys alline
dys rophy

DIAGNOSTIC EVALUATION
Fluorescein angiography may reveal areas
o nonper usion in he re inal periphery.
Op ical coherence omography
may reveal hyperre ec ive bodies corresponding o inner re inal crys alline
deposi s.

alc Retinopathy

PROGNOSIS AND
MANAGEMENT
T e visual prognosis is variable. In he se ing o chronic in ravenous drug abuse, visual
acui y may be decreased as a resul o macular
re inal capillary nonper usion or vi reous
hemorrhage.

339

Decreased visual acui y may also occur


secondary o macular f brosis associa ed
wi h in ravenous me hylphenida e abuse.
Peripheral laser rea men can cause regression o re inal neovasculariza ion.

340

RAUMA IC AND OXIC RE INO PA HIES

B
FIGURE 8-13. alc retinopathy. A. Color undus pho ograph demons ra ing yellow re rac ile par icles wi hin
he re ina. B. Red- ree undus pho ograph highligh ing in rare inal macular re rac ile deposi s.

Chloroquine or Hydroxychloroquine Retinopathy

CH
C
H LO
O RO
O Q UIN E O R
H YDR
YDROXYCH
R OX
XYC H LO
OR
RO
O Q UIN
U IN E
RET
R
ET IN
I N O PAT
PAT H Y

his en i y describes degenera ion o he


RPE and neurosensory re inal damage resul ing rom chronic daily inges ion o
chloroquine (Aralen) or hydroxychloroquine
(Plaquenil).

EPIDEMIOLOGY
T e condi ion occurs in individuals receiving chloroquine or an imalarial rea men
and in pa ien s wi h rheuma oid ar hri is or
lupus ery hema osus who ake hydroxychloroquine. Hydroxychloroquine is less likely
han chloroquine o cause re inopa hy.

HISTORY
T ere is a his ory o daily dosages exceeding 250 mg o chloroquine or 400 mg o
hydroxychloroquine.

CLINICAL SIGNS
Visual acui y is variable.
An abnormal oveal re ex and sub le
para oveal re inal pigmen epi helial s ippling
precedes he developmen o a ring o re inal
pigmen epi helial a rophy surrounding he
oveal region, known as he classic bulls-eye
maculopa hy (Fig. 8-14). Re inal pigmen
epi helial dis urbance undernea h he ovea is
associa ed wi h decreased visual acui y.
A paracen ral sco oma is he earlies sign
o chloroquine or hydroxychloroquine oxici y and may precede he developmen o undus f ndings.
O her signs o chloroquine or hydroxychloroquine re inopa hy include re inal vessel
at enua ion and corneal ver icilla a. Pa ien s

341

may display sys emic f ndings o rheuma oid


ar hri is or lupus ery hema osus.

DIFFERENTIAL DIAGNOSIS
Cone dys rophy
Chloroquine or hydroxychloroquine oxici y
Benign concen ric annular dys rophy
SpielmeyerVog Bat en disease
S argard s maculopa hy
Age-rela ed macular degenera ion
Fenes ra ed sheen macular dys rophy

DIAGNOSTIC EVALUATION
Amsler grid evalua ion may allow he
pa ien o de ec early sco oma orma ion.
Humphrey visual f eld es ing using red
ligh may be he mos sensi ive means o
de ec ing a paracen ral sco oma.
Color vision es ing may reveal
dyschroma opsia.
Fluorescein angiography will show re inal
pigmen epi helial window de ec s in macular
region.
Elec rore inography and elec rooculography may be abnormal la e f ndings.
Op ical coherence omography may reveal
hinning o macular and para oveal re ina
wi h loss o ganglion cell layer.

PROGNOSIS AND
MANAGEMENT
Promp discon inua ion o medica ion on
de ec ion o oxici y usually preven s ur her
damage o he RPE and re ina.
Pa ien s wi h mild re inal pigmen epi helial
changes may rever o normal and re ain good
visual acui y. In advanced cases, however, he
condi ion may worsen despi e cessa ion o he
medica ion, and visual loss may ensue.

342

RAUMA IC AND OXIC RE INO PA HIES

B
FIGURE 8-14. Chloroquine retinopathy. A. Sub le para oveal re inal pigmen epi helial al era ions ( arrow)
in a pa ien wi h a his ory o long- erm chloroquine use. B. Bulls-eye maculopa hy (inse ) associa ed wi h
chloroquine re inopa hy. ( A, Cour esy o Dr. Alexander J. Brucker; B, cour esy o he Wills Eye Hospi al
collec ion, Philadelphia, Pennsylvania.)

T ioridazine Retinopathy

T H IIO
O RIDAZIN
RID
D AZ IN
NE
RET
R
ET IN
N O PAT
PA
AT H Y

hioridazine re inopa hy describes visual


dis urbance and pigmen ary re inopa hy
ha resul s rom chronic high-dose hioridazine use. Daily doses are more predic ive o
re inal oxici y han he o al cumula ive dose.

EPIDEMIOLOGY
AND ETIOLO GY
Individuals wi h psychia ric disorders
requiring hioridazine.
T e exac mechanism o re inal damage
is unclear al hough he medica ion is el o
accumula e in re inal pigmen epi helial cells.

HISTORY
T e use o hioridazine (Mellaril) in excess
o 800 mg per day has been associa ed wi h
re inopa hy.

CLINICAL SIGNS
Acu e oxici y is mani es ed by he sudden onse o visual dis urbance, nyc alopia,
or dyschroma opsia (red or brown colora ion
o vision). Re inal pigmen epi helial changes
can progress despi e drug cessa ion.
Early changes include granular re inal
pigmen epi helial s ippling pos erior o he
equa or.

343

Nummular re inal pigmen epi helial


loss may be seen in in ermedia e s ages
(Fig. 8-15).
La e ea ures o hioridazine oxici y
include op ic a rophy, re inal vessel at enua ion, di use RPE, and choriocapillaris
a rophy.

DIFFERENTIAL DIAGNOSIS
Gyra e a rophy, re ini is pigmen osa,
cancer-associa ed re inopa hy, choroideremia,
syphilis, viral choriore ini is, and rauma may
demons ra e f ndings similar o hioridazine
oxici y.

DIAGNOSTIC EVALUATION
Humphrey visual f eld es ing may reveal
paracen ral sco omas or cons ric ion.
Fluorescein angiography may reveal a
spec rum o re inal pigmen epi helial window de ec s and disrup ion o he choriocapillaris. T e elec rore inogram may be normal
in early s ages, bu demons ra e at enua ion in
la er s ages.

PROGNOSIS AND
MANAGEMENT
Cessa ion o he drug early in he course
o he oxici y may lead o reversal o visual
dis urbance. However, prolonged use o he
medica ion may lead o progressive visual loss
despi e drug cessa ion.

344

RAUMA IC AND OXIC RE INO PA HIES

B
FIGURE 8-15. T ioridazine retinopathy. A. Widespread re inal pigmen epi helial and choriocapillaris
a rophy. B. Less widespread re inal pigmen epi helial and choriocapillaris a rophy may be mis aken or
geographic a rophy due o age-rela ed macular degenera ion. Visual acui y is 20/ 200.
( continued)

T ioridazine Retinopathy

345

C
FIGURE 8-15. ( Continued) T ioridazine retinopathy. C. Fluorescein angiogram showing re inal pigmen
epi helial a rophy as well as nummular areas o choroidal vascular loss ( arrows) .

C H AP T ER

Peripheral Re inal Disease


James F. Vander

RE
R
E INAL
IN
NA
AL BREAK
BR EA
AK O R

EAR
EA
AR

e inal break or ear describes a ullhickness de ec in he re ina, generally in


he re inal periphery, al hough he break may
occur anywhere. Breaks occurring as he resul
o vi reous rac ion are known as re inal ears.

EPIDEMIOLOGY
AND ETIOLO GY
Re inal breaks are common. T ey are
more requen in myopia, pseudophakia, and
a er rauma.
Many cases are bila eral and mul iple.
Re inal ears are caused by vi reous racion, mos commonly ound wi h degenera ive
vi reous lique ac ion and pos erior vi reous
de achmen (Fig. 9-1). O her re inal breaks
(see la er discussion) resul rom developmenal or degenera ive abnormali ies or rauma.

HISTORY
Re inal ears are o en associa ed wi h
oa ers and ashing ligh s (pho opsia).
346

Many breaks are asymp oma ic.


I associa ed wi h re inal de achmen
(RD), hen progressive visual f eld loss occurs.

IMPORTANT
CLINICAL SIGNS
ypes o re inal breaks
Horseshoe ( ap) ears: T e horseshoe
is open an eriorly. Vi reore inal rac ion
o en persis s (Fig. 9-2).
Opercula ed ears: A ragmen o re ina
is orn comple ely ree o he re ina and
oa s above i . T e vi reous rac ion is
relieved (Fig. 9-3).
A rophic re inal break: Usually round,
o en small, holes; no associa ed wi h racion (Fig. 9-4).
Re inal dialysis: Disinser ion o he re ina
rom he pars plana a he ora serra a; mos
o en in ero emporal; superonasal is vir ually
pa hognomonic or rauma (Fig. 9-5).
Gian ear: A ear grea er han 90
degrees, spon aneous or post rauma ic
(Fig. 9-6).

Re inal Break or Tear

S re ch/ necro ic ears: rauma ic ears


o variable size, o en irregular in orien aion wi h jagged edges; hemorrhage or
o her signs o rauma (Fig. 9-7).

ASSO CIATED
CLINICAL SIGNS
Look or predisposing condi ions (see earlier discussion)
Pigmen cells in he vi reous ( obacco
dus )
70% wi h hemorrhagic pos erior vi reous
de achmen (PVD)
Vi reous hemorrhage [ ears are ound in
70% o pa ien s wi h hemorrhagic proli eraive vi reore inopa hy (PVR)]
Subre inal uid accumula ing around he ear
Pigmen around he base o he re inal
break (indica es chronici y)

DIFFERENTIAL DIAGNOSIS
Vi reore inal u
Meridional old or complex
Ou er wall hole in re inoschisis
Cobbles one degenera ion
Lat ice degenera ion

DIAGNOSTIC EVALUATION
Indirec oph halmoscopy wi h scleral
depression is cri ical.

347

Con ac lens examina ion o he periphery


may help conf rm he presence and na ure o
he break.

PRO GNOSIS AND


MANAGEMENT
T e risk o developing RD (and, hereore, indica ion or prophylac ic rea men )
depends on he ype o break presen .
Symp oma ic ears wi h persis en rac ion
(horseshoe ears, gian ears) have a high
risk o subsequen RD and are rea ed when
recognized. Asymp oma ic ap ears have
a lower risk bu are o en prophylac ically
rea ed. Symp oma ic opercula ed ears also
have a much lower risk o subsequen RD.
rea men is more con roversial. Dialysis
and o her post rauma ic ears are generally
rea ed when recognized. rea men or
a rophic breaks, asymp oma ic opercula ed
ears, and breaks wi h pigmen around hem
almos never require prophylac ic rea men .
Excep ions migh include pa ien s wi h a
his ory o RD o he ellow eye, an icipa ed
ca arac surgery, or a s rong amily his ory o
re inal ears or RD.
rea men op ions include cryo herapy
or laser pho ocoagula ion (Figs. 9-89-10).
Developmen o he indirec oph halmoscopic laser delivery sys em has acili a ed he
use o laser rea men and reduced he need
or cryo herapy, which generally produces
more pain during rea men . Pa ien s wi h
cloudy media or signif can subre inal uid
may be bet er rea ed wi h cryo herapy.

348

9 PERIPHERAL RET INAL DISEASE

B
FIGURE 9-1. Pos erior vi reous de achmen (P VD). A. Annulus o condensed vi reous ( Weiss ring) ( arrow)
f oa ing in ron o he op ic disc a er PVD. B. Pho ograph ocused on Weiss ring.

Re inal Break or Tear

349

B
FIGURE 9-2. Horseshoe re inal ear. A. Horseshoe ear wi h a ew f ecks o hemorrhage and a small amoun o
subre inal f uid surrounding i . B. Large horseshoe ear wi h a bridging re inal vessel.
( continued)

350

9 PERIPHERAL RET INAL DISEASE

C
FIGURE 9-2. ( Continued) Horseshoe re inal ear. C. Horseshoe ear wi h associa ed re inal hemorrhages
(arrow) . Vi reous eleva es he f ap ear.

FIGURE 9-3. Opercula ed re inal ear.

Re inal Break or Tear

351

FIGURE 9-4. Peripheral cys oid degenera ion. Peripheral cys oid degenera ion wi h associa ed a rophic
re inal holes.

FIGURE 9-5. Re inal dialysis. Wide-angle view o in ero emporal dialysis wi h associa ed re inal de achmen .

352

9 PERIPHERAL RET INAL DISEASE

FIGURE 9-6. Gian re inal ear. Rolled edge o a gian re inal ear.

A
FIGURE 9-7. Post rauma ic re inal ear. A. S re ch ear a er blun rauma (arrows o re inal de achmen ) .
( continued)

Re inal Break or Tear

353

C
FIGURE 9-7. ( Continued) Post rauma ic re inal ear. B. wo s re ch ears a er blun rauma. C. rauma ic
macular hole.

354

9 PERIPHERAL RET INAL DISEASE

B
FIGURE 9-8. Re inal ear, pre rea men and post rea men . A. Small horseshoe ear ( arrow) . B. Immedia ely
a er laser pho ocoagula ion.

Re inal Break or Tear

355

B
FIGURE 9-9. Re inal ear, pre rea men and post rea men . A. Horseshoe ear wi h bridging vessel.
B. Immedia ely a er laser pho ocoagula ion.

356

9 PERIPHERAL RET INAL DISEASE

B
FIGURE 9-10. Re inal ear, post rea men . A. Horseshoe re inal ear immedia ely a er laser pho ocoagula ion. B. Several weeks a er laser pho ocoagula ion or re inal ear in ano her pa ien . Laser marks have
become pigmen ed.

Rhegma ogenous Re inal De achmen

RH
R
H EGMA
E G M A O GEN
G E N O US
US
RE
R
E INAL
IN
N AL DE
E ACH
AC H M
MEN
EN

hegma ogenous RD is a separa ion o


he re ina rom he underlying re inal
pigmen epi helium (RPE) by uid ha gains
access o he subre inal space via one or more
ull- hickness re inal breaks.

357

Iden i ying he re inal break (o en small


and di cul o f nd) is he key. Pseudophakic
RDs are o en caused by small, pinpoin re inal holes a he vi reous base and may be di f cul o de ec .

ASSO CIATED
CLINICAL SIGNS

Epidemiology is he same as ha or re inal breaks since, by def ni ion, a re inal break


is presen and he cause o he RD.
Re inal breaks develop in o rhegma ogenous RD by a combina ion o vi reore inal
rac ion and uid curren s ha cause vi reous
uid o move hrough he re inal break(s)
and overcome he normal at rac ive orces
be ween he pho orecep ors and he RPE.

Pigmen : Granules in he vi reous are


almos always seen. Hyperpigmen a ion or
loss o pigmen a he RPE is common, especially in chronic RD. Linear pigmen (demarca ion line) sugges s chronici y and may be
mul iple (Fig. 9-12).
Hypo ony: Rela ive o he ellow eye. T is
is no invariably presen . In chronic rhegma ogenous RD, pressure may be normal or
even high.
O her ea ures o chronic RD: Re inal
neovasculariza ion, ca arac , an erior uvei is,
rubeosis iridis, and re inal cys s (Fig. 9-13).

HISTORY

DIFFERENTIAL DIAGNOSIS

EPIDEMIOLOGY
AND ETIOLO GY

T ere is a progressive loss o he visual


f eld (o en described as a cur ain or shadow
blocking he vision), requen ly accompanied
or preceded by oa ers and ashing ligh s.
Pa ien s wi h peripheral RDs may be asympoma ic or simply have ashes and oa ers.

IMPORTANT
CLINICAL SIGNS
In addi ion o iden i ying he re inal
break(s), he re ina is seen o be eleva ed by
subre inal uid (Fig. 9-11). T e re ina loses
i s ransparency o a variable degree, o en
becoming ranslucen wi h a corruga ed
appearance. T ere is undula ion wi h eye
movemen . Chronic rhegma ogenous RD
may appear ransparen and no undula e.

Re inoschisis
Exuda ive RD
rac ional RD
Choroidal de achmen

DIAGNOSTIC EVALUATION
Indirec oph halmoscopy wi h scleral
depression is he key. Con ac lens examinaion may help f nd small peripheral re inal
breaks.
Sli -lamp examina ion o he an erior vi reous conf rms vi reous pigmen .
B-scan ul rasonography conf rms re inal
eleva ion in cases wi h media opaci ies.
Examine he ellow eye o look or
re inoschisis.

358

9 PERIPHERAL RET INAL DISEASE

PROGNOSIS
Chronic, asymp oma ic RD may remain
s a ionary and no require rea men .
Spon aneous regression o RD can occur
bu is rare (Fig. 9-14).
Mos RDs and vir ually all symp oma ic
de achmen s will progress, causing severe
permanen visual loss i un rea ed. Visual
po en ial is direc ly rela ed o he presence
and dura ion o macular involvemen
(Fig. 9-15).
RDs no involving he macula o en
recover vision ully.
Macula-o RDs usually lead o permanen reduc ion o cen ral vision even
when repaired properly. Recovery o en
akes mon hs, and he degree o recovery
diminishes wi h longer periods o macular
de achmen .
Management
Laser pho ocoagula ion: Used alone i has
a limi ed role in managemen o RD. Usually
i canno seal a re inal break closed in he
presence o subre inal uid. Laser rea men
may be used o crea e a barrier (wall o he
de achmen ) o preven progression o he
de achmen . I is especially use ul in chronic
in erior RD or in cases where sys emic illness
preven s more def ni ive repair.
Cryo herapy (see preceding discussion o
Laser Pho ocoagula ion): Occasionally RDs
wi h very shallow uid around he re inal
break can be cured by rea ing he break wi h
cryo herapy alone.
Pneuma ic re inopexy: An in ravi real gas
bubble is used o amponade he re inal break
closed emporarily. T e subre inal uid will
resolve and ei her laser pho ocoagula ion or
cryo herapy is used o permanen ly close he
re inal break(s). T e success ra e is high and
varies wi h pa ien selec ion. Pa ien s wi h

phakic RDs wi h a single, superior re inal


break wi hou vi reous hemorrhage, ex ensive lat ice degenera ion, or early PVR do
bes . T is rela ively noninvasive, low-cos ,
quick-recovery o ce procedure is gaining in
accep ance.
emporary balloon: T is rea men consis s o an ex ernal device applied via small
conjunc ival incisions. T e balloon emporarily inden s he sclera o allow cryo herapy or a
laser-induced choriore inal adhesion o orm.
T is rea men op ion is especially use ul or
in erior RD when pneuma ic re inopexy is
no an op ion; however, i is no a widely used
echnique.
Scleral buckle: T is widely applied echnique consis s o inden a ion o he sclera
using a exible silicone sponge or s rip ha is
permanen ly su ured on or wi hin he sclera
o relieve vi reore inal rac ion on he re inal
break(s). Cryo herapy is generally used o
crea e permanen adhesion al hough pos opera ive laser herapy can be applied. Drainage
o subre inal uid or injec ion o in ravi real
gas, or bo h, are also some imes per ormed o
assis in reat achmen . Success ra es o over
95% have been repor ed or repair o primary
RD. Side e ec s and complica ions o he
scleral buckle include:
Pain
In ec ion
Hemorrhage (especially wi h drainage
o subre inal uid; Fig. 9-16)
Re inal incarcera ion a drainage si e
(Fig. 9-17)
Induced myopia
Diplopia
Ex rusion or in rusion (Fig. 9-18)
An erior segmen ischemia
P osis
Vi rec omy: T is echnique is increasingly used in managing primary RD wi h or

Rhegma ogenous Re inal De achmen

wi hou a scleral buckle. I allows or direc


release o vi reore inal rac ion. In ravi real
gas or silicone oil is used o amponade he
re ina while re inopexy wi h laser or cryoherapy akes e ec . Vi rec omy is especially
use ul or RDs wi h pos erior breaks, PVR,
vi reous hemorrhage, or a igh orbi preven ing scleral buckle. Side e ec s and complicaions o vi rec omy include:

359

Eleva ed in raocular pressure


Ca arac
Disloca ion o in raocular lens
In ec ion
Hemorrhage
Pos opera ive posi ioning (e.g.,
ace-down) may be needed

A
FIGURE 9-11. Rhegma ogenous re inal de achmen (RD). A. Rhegma ogenous RD wi h a small horseshoe
ear ( arrow) .
( continued)

360

9 PERIPHERAL RET INAL DISEASE

C
FIGURE 9-11. ( Continued) Rhegma ogenous re inal de achmen (RD). B. RD wi h bullous eleva ion and
corruga ed appearance o he de ached re ina. C. RD wi h a small horseshoe ear ( arrow).

Rhegma ogenous Re inal De achmen

361

B
FIGURE 9-12. Rhegma ogenous RD, chronic. A. Chronic RD ( right of arrows) wi h pigmen ed demarca ion
line ( arrows) . B. Chronic RD ( black arrow) wi h mul iple demarca ion lines and some subre inal brous bands
(white arrows) .

362

9 PERIPHERAL RET INAL DISEASE

B
FIGURE 9-13. Rhegma ogenous RD, chronic. A. Re inal cys s associa ed wi h chronic RD. B. B-scan
ul rasound o re inal cys ( short arrow) and chronic RD ( long arrow) .

Rhegma ogenous Re inal De achmen

363

FIGURE 9-14. Rhegma ogenous RD, regressed. Pigmen a ion rom spon aneously regressed RD.

FIGURE 9-15. Rhegma ogenous RD, pigmen ar y dis urbances. Subre inal dispersion o pigmen a er repair
o macula-o RD.

364

9 PERIPHERAL RET INAL DISEASE

B
FIGURE 9-16. Rhegma ogenous RD, subre inal hemorrhage. A. Subre inal hemorrhage benea h he at ached
re ina associa ed wi h drainage o subre inal f uid during scleral buckling surgery. B. Macular ex ension o
subre inal blood complica ing drainage o subre inal f uid.

Rhegma ogenous Re inal De achmen

365

FIGURE 9-17. Rhegma ogenous RD, re inal incarcera ion. Incarcera ion o he re ina in o he drainage si e
during scleral buckle.

FIGURE 9-18. Scleral buckle. Ex ruding scleral buckle.

366

9 PERIPHERAL RET INAL DISEASE

PRO
OL
LIFERA
IF
F ERA
A IVE
IV
VE
VI R
REO
EO
OR
RE
E IN O PA
A HY
PVR re ers o he developmen o prere inal, subre inal, and even in rare inal f brous
proli era ion ha induces rac ion and disor ion o he re ina in he presence o RD
(Table 9-1).

PVR may be primary or develop


a er at emp ed repair o RD. I ends o
occur 3 weeks o 3 mon hs a er ini ial
repair.

HISTORY
T e same as or RD.

EPIDEMIOLOGY
AND ETIOLO GY

IMPORTANT
CLINICAL SIGNS

In he presence o RD, ac iva ion o


vi reous glial cells and me aplasia o re inal
pigmen epi helial cells produces f brous
issue ha proli era es on and under he
re ina.
Al hough he mechanism is no o ally
unders ood, risk ac ors include RDs wi h
mul iple re inal breaks, large re inal breaks,
chronici y, vi reous hemorrhage, and
rauma.

T e re ina is rela ively immobile wi h f xed


olds.
Rolled edges o he re inal break(s) and
ex ensive pigmen in vi reous, on and under
re ina are no ed (Fig. 9-19).
Vi reous bands are prominen .

TABLE 9 1. Classi ca ion o Proli era ive


Vi reore inopa hy
Grade A

Vi reous haze, vi reous pigmen clumps,


and pigmen clus ers in erior o re ina

Grade B

Inner re inal wrinkling, re inal s if ness,


vessel or uosi y, rolled edge o break,
and decreased vi reous mobili y

Grade C

P (pos erior)expressed in he
number o clock hours involved (112)
Focal, dif use, or circum eren ial ullhickness olds, subre inal s rands

ASSO CIATED
CLINICAL SIGNS
Hypo ony
An erior are or uvei is
Rubeosis iridis

DIFFERENTIAL DIAGNOSIS
Purely rac ional RD (e.g., diabe ic re inopa hy; Fig. 9-20)
Exuda ive RD

A(an erior)expressed in he number


o clock hours involved (112)

DIAGNOSTIC EVALUATION

Focal, dif use, or circum eren ial ullhickness olds; subre inal s rands;
condensed vi reous; and an erior
displacemen o vi reous base wi h
an erior rough.

Diagnosis is based on indirec


oph halmoscopy.
Ul rasound may show he rigid na ure
o RD i de achmen canno be direc ly
visualized.

Proli era ive Vi reore inopa hy

PROGNOSIS AND
MANAGEMENT
PVR almos always progresses, causing
severe visual loss. Repair is di cul ,
especially or more advanced degrees o
PVR (see Table 9-1).

367

Repair almos always includes vi rec omy,


o en wi h a high encircling scleral buckle as
well as a long-las ing vi reous gas or silicone
oil amponade.
Recurrence ra e is high, and recovery o
excellen visual acui y is uncommon in severe
cases (Figs. 9-21 and 9-22).

368

9 PERIPHERAL RET INAL DISEASE

B
FIGURE 9-19. Proli era ive vi reore inopa hy (P VR). A. High magni ca ion view o PVR wi h radia ing
re inal olds. B. Wide eld view showing re inal olds radia ing rom op ic disc.

Proli era ive Vi reore inopa hy

369

FIGURE 9-20. Trac ional RD associa ed wi h proli era ive diabe ic re inopa hy. Wide- eld view o rac ion
re inal de achmen wi h regressed neovasculariza ion producing a ring o bro ic rac ion.

370

9 PERIPHERAL RET INAL DISEASE

FIGURE 9-21. PVR, recurren RD. Recurren RD wi h severe PVR. No e severe brous proli era ion on he
re inal sur ace and associa ed re inal breaks.

Proli era ive Vi reore inopa hy

371

B
FIGURE 9-22. PVR, f xed re inal olds. A. PVR wi h macular pucker ( long arrow) a er vi rec omy and scleral
buckle or RD. No e he edge o he slowly clearing vi reous gas bubble ( short arrow) used during he ini ial
repair. B. In erior proli era ion causing rac ional eleva ion o he re ina (arrow) .

372

LA

9 PERIPHERAL RET INAL DISEASE

ICE DEGEN ERA IO N

at ice degenera ion is a peripheral undus


abnormali y consis ing o re inal hinning
wi h loss o inner re inal issue and unusually
s rong vi reore inal adhesion a he edges o
he re inal excava ion.

EPIDEMIOLOGY
AND ETIOLO GY
T e condi ion is common, occurring in
abou 8%o he popula ion. I is more common
and more ex ensive in pa ien s wi h myopia.

HISTORY
Pa ien s are asymp oma ic excep when
he condi ion is associa ed wi h re inal ear
and de achmen orma ion.

IMPORTANT
CLINICAL SIGNS
Lat ice degenera ion can be variable in
pigmen a ion, circum eren ial ex en , and
orien a ion (usually concen ric wi h ora
serra a bu may be radial or perivascular)
(Fig. 9-23).
Cross-ha ched whi e lines, which give he
appearance o a lat ice, are o en no presen .
Indirec oph halmoscopy is usually necessary
o see lat ice degenera ion.
Dynamic scleral depression is he key o
apprecia ing he inner re inal excava ion.

ASSO CIATED
CLINICAL SIGNS
Myopia
S icklers syndrome: T is syndrome,
which has an au osomal-dominan

inheri ance, consis s o vi reore inopa hy wi h


ar hropa hy and o her sys emic ea ures.
Re inal breaks: A rophic round holes
are o en presen wi hin he lat ice
degenera ion, some imes wi h associa ed
subre inal uid. rac ional ap ears may
occur, usually a he edges o he lat ice
(Fig. 9-24).

DIFFERENTIAL DIAGNOSIS
Cobbles one degenera ion
Cys oid degenera ion
Re inoschisis
Vi reore inal u
Pigmen ed or a rophic choriore inal
scars
Grouped pigmen a ion

DIAGNOSTIC EVALUATION
Indirec oph halmoscopy is per ormed
wi h scleral depression.
Peripheral con ac lens examina ion may
help conf rm he presence o associa ed
ears.

PROGNOSIS AND
MANAGEMENT
Usually his condi ion is o no clinical
signif cance.
T e risk o RD increases wi h he ex en
o lat ice degenera ion. Prophylac ic rea men (laser or cryo herapy) generally is no
indica ed excep i he ellow eye had lat icerela ed RD.
A s rong amily his ory o re inal ear
or RD or an icipa ed in raocular surgery
are o her possible considera ions or
rea men .

Lat ice Degenera ion

373

FIGURE 9-23. Pigmen ed lat ice degenera ion. No e he lat ice-like ne work wi hin he area o increased
pigmen a ion.

FIGURE 9-24. Lat ice degenera ion wi h associa ed horseshoe ear and RD (arrow). A horseshoe ear a he
edge o lat ice ref ec s rm vi reore inal adhesion a he edge o he lat ice degenera ion.

374

9 PERIPHERAL RET INAL DISEASE

discre e re inal eleva ion (Fig. 9-25). T ere


may be pigmen around he u . T ey o en
are mis aken or small ap ears, bu no ullhickness break is presen .
Meridional olds are olds o redundan
re ina (Fig. 9-26). Mos o en superonasal,
hey may s raddle and are perpendicular
o he ora serra a. Small re inal breaks may
develop a heir pos erior end.

EPIDEMIOLOGY
AND ETIOLO GY

DIFFERENTIAL DIAGNOSIS

VII R
V
REO
E O RE
R E INAL
I N AL
L UF
F
AN
A
ND M
MERIDIO
E R I DII O N
NA
AL
AL FO
O LD
D
i reore inal u and meridional old are
common s ruc ural abnormali ies o
he ex reme re inal periphery wi h unusually
s rong vi reore inal adhesion. T ey are in requen ly he cause o rhegma ogenous RD.

Vi reore inal u s are very common in he


general popula ion and are he source o RD
in less han 1% o all a ec ed pa ien s.
Meridional olds are very common in he
general popula ion and are he source o RD
in less han 1% o all a ec ed pa ien s.
T ey are a developmen al abnormali y.

HISTORY
T e abnormali ies are asymp oma ic
excep when hey precipi a e RD.

IMPORTANT
CLINICAL SIGNS
Vi reore inal u s are small areas o subs an ial ocal vi reous rac ion producing a

Re inal ear
Snowball or o her in amma ory
precipi a e

PROGNOSIS AND
MANAGEMENT
Bo h abnormali ies are almos
always inciden al f ndings o no clinical
impor ance.
Rarely, hey may be he only abnormal
f nding in cases o RD and are presumed o
be he cause o he de achmen .
T ey are generally rea ed wi h cryo herapy or laser pho ocoagula ion a he ime o
RD repair, bu prophylac ic rea men is no
warran ed.

Vi reore inal Tu and Meridional Fold

375

FIGURE 9-25. Vi reore inal u . Focal opaci ca ion and eleva ion o he re ina occurs a wo gray-whi e
vi reore inal u s.

FIGURE 9-26. Schema ic o meridional old. T e old represen s a plea o re ina be ween he ora bays.

376

9 PERIPHERAL RET INAL DISEASE

CO
C
O BBLES
BBLE
ES O N E
DEGEN
D
EG E N E
ERA
R A IO
ON

O en a pigmen ed halo is no ed.


T e degenera ion is mos common in eriorly and is usually bila eral.

DIFFERENTIAL DIAGNOSIS

obbles one degenera ion, also called paving s one degenera ion, describes discre e circular areas o peripheral a rophy o he
re ina, RPE, and choriocapillaris.

EPIDEMIOLOGY
AND ETIOLO GY
T is is a degenera ive process o unknown
e iology.
T e condi ion is more common in he
elderly.

HISTORY
Pa ien s are usually asymp oma ic.

IMPORTANT
CLINICAL SIGNS
Circular areas o hinning o he re ina
wi h depigmen a ion are seen (Fig. 9-27).

Re inal breaks
Lat ice degenera ion
Congeni al hyper rophy o RPE

DIAGNOSTIC EVALUATION
Diagnosis is based on indirec
oph halmoscopy.

PROGNOSIS AND
MANAGEMENT
Cobbles one degenera ion is o no clinical
impor ance. I is no a predisposing condi ion
or RD and, in ac , may be pro ec ive agains
a progressive RD.

Cobbles one Degenera ion

377

FIGURE 9-27. Cobbles one ( paving s one) degenera ion. Areas o pigmen a ion are observed wi hin he
discre e areas o depigmen a ion.

378

9 PERIPHERAL RET INAL DISEASE

PERIPH
P
ER
R IPH
H ERAL
E R AL GR
GRO
R O UPED
UP
P ED
D
PIGMEN
P
IGM
M EN
N A IO
ON

eripheral grouped pigmen a ion describes


a clus er o a , discre e pigmen ed spo s
deep o re ina.

EPIDEMIOLOGY
AND ETIOLO GY
I may occur a any age, in bo h genders.
T is is a congeni al abnormali y.

HISTORY
Pa ien s are usually asymp oma ic.

IMPORTANT
CLINICAL SIGNS
A clus er o a , uni ormly pigmen ed spo s
o variable size are o en no ed (Fig. 9-28).
T ese are also known as bear racks because
o heir paw-prin appearance. Rarely, he pigmen a ion is bila eral.

ASSO CIATED
CLINICAL SIGNS
T ere are no signs o in amma ion, uid,
or eleva ion.

DIFFERENTIAL DIAGNOSIS
Cobbles one degenera ion
Choroidal nevus or melanoma

Lat ice degenera ion


Choriore inal scar
Impor an : Peripheral grouped
pigmen a ion mus be dis inguished rom
he pigmen ed spo s in he undus ha
are seen in amilial polyposis (Gardners
syndrome). T is au osomal-dominan
condi ion, which is usually asymp oma ic,
o en includes a , variably pigmen ed
spo s in he undus. Lesions o Gardners
syndrome end o be more oval, wi h
an irregularly pigmen ed come s ail
(Fig. 9-29). A ec ed pa ien s have a very
high risk o colonic carcinoma. Fundus
lesions in Gardners syndrome are usually
seen as early as in ancy. For pa ien s wi h a
posi ive amily his ory, he presence o undus
lesions is vir ually diagnos ic o he sys emic
syndrome.

DIAGNOSTIC EVALUATION
Diagnosis is based on indirec
oph halmoscopy.
For suspicious lesions (see preceding discussion), ob ain a amily his ory o
gas roin es inal malignancy and consider
colonoscopy.

PROGNOSIS AND
MANAGEMENT
Peripheral grouped pigmen a ion is o no
clinical impor ance wi h no po en ial or RD
or malignan rans orma ion.

Peripheral Grouped Pigmen a ion

379

FIGURE 9-28. Grouped pigmen a ion. Small clumps o grouped pigmen a ion (bear racks; inse ) have
lit le risk o malignan rans orma ion.

FIGURE 9-29. Pigmen ed undus lesions associa ed wi h Gardners syndrome. No e he depigmen ed halo
(arrowhead) and oblong shape o he lesion.

380

9 PERIPHERAL RET INAL DISEASE

DEGEN
D
E G E N ERA
A IVE
IV
VE
RE
R
E IN
INO
OSCH
SC H IS
ISIS
SIS
S
Degenera ive re inoschisis is a split ing o
he re ina ha produces eleva ion o he inner
re ina, mimicking a de achmen .

EPIDEMIOLOGY
AND ETIOLO GY
T e condi ion is a degenera ive process
ha begins wi h peripheral cys oid degeneraion. Fur her split ing in he ou er plexi orm
layer leads o he eleva ion no ed clinically.
Degenera ive re inoschisis a ec s bo h
genders and all races.

HISTORY
Pa ien s are asymp oma ic excep in rare
cases o progressive RD.

IMPORTANT
CLINICAL SIGNS
A ransparen dome-shaped eleva ion o
peripheral re ina may be easily overlooked
(Fig. 9-30).
A hin, cys ic appearance is no ed.
T e in ero emporal undus is mos o en
a ec ed. In he majori y o cases he condiion is bila eral.
T e re ina is immobile, and here is no associa ed pigmen a ion o he RPE or vi reous.

ASSO CIATED
CLINICAL SIGNS
Whi e snow akes on he underside
o he inner re inal layer or a pockmarked
appearance may be no ed.
Ou er wall holes are circular, and here are
some imes mul iple de ec s (Fig. 9-31).

De ec ion o an in ac , overlying, inner


layer is acili a ed by no ing re inal vessels
coursing over he hole.
An absolu e visual f eld de ec corresponds
o he area o re inoschisis.

DIFFERENTIAL DIAGNOSIS
Rhegma ogenous RD: T e presence o a re inal break, corruga ions, undula ions, pigmen
in vi reous or demarca ion lines, symp oms,
hypo ony, and a ellow eye ha is normal help
dis inguish his condi ion rom re inoschisis.
Exuda ive RD: Associa ed umor or
in amma ory signs, shi ing uid, and sympoms sugges his e iology.
Juvenile re inoschisis (X-linked): T is
heri able condi ion produces a s ella e oveal
appearance wi h split ing neurosensory re ina
wi hin he nerve f ber layer. I may presen as
vi reous hemorrhage.

DIAGNOSTIC EVALUATION
Evalua ion consis s o indirec oph halmoscopy wi h scleral depression and con ac
lens examina ion.
T e ellow eye should also be examined.

PROGNOSIS AND
MANAGEMENT
Degenera ive re inoschisis rarely produces
vision loss. Progression o pos erior re ina or
developmen o rue rhegma ogenous de achmen is uncommon.
Ou er wall de ec s usually are easily
de ec ed, bu inner wall breaks are di cul o
iden i y. In cases o very pos erior re inoschisis wi h progression, ou er wall breaks may
be surrounded wi h laser rea men
(Fig. 9-32).
I he ou er layer is de ached as well, hen
surgery, usually vi rec omy, is needed.

Degenera ive Re inoschisis

381

B
FIGURE 9-30. Peripheral re inoschisis. A. No e he smoo h, dome-shaped eleva ion in he in ero emporal
quadran ( arrows) . Degenera ive re inoschisis B. Wide-angle pho ograph o in ero emporal re inoschisis
( lower le ) . T e ex ernal ransillumina ion is no ed (direc ly le ) .

382

9 PERIPHERAL RET INAL DISEASE

FIGURE 9-31. Degenera ive re inoschisis, ou er wall breaks. Ou er wall holes associa ed wi h re inoschisis
(inse ) are required o cause a re inoschisis-associa ed re inal de achmen . No e ha he inner-layer re inal
vessels course over he ou er-layer re inal holes.

FIGURE 9-32. Degenera ive re inoschisis, ou er wall breaks. Laser rea men ( arrows) surrounding ou er
wall holes (as erisks) in re inoschisis.

Exuda ive Re inal De achmen

EXU
EXUDA
U DA
A IVE
IV
VE RE
E INAL
IN
N AL
L
DE AC
ACH
C H MEN
ME
EN

xuda ive RD describes eleva ion o he


re ina by uid ha leaks rom wi hin or
under he re ina.

EPIDEMIOLOGY
AND ETIOLO GY
By def ni ion, he re inal eleva ion is no
due o a re inal break.
Breakdown o he normal inner (re inal
vascular endo helial cells) or ou er blood
re inal barrier (RPE) produces exuda ion o
uid, eleva ing he re ina.
Cases can be divided in o one o our ca egories, as ollows:
Inf ammatory
Scleri is
Haradas disease
Sympa he ic oph halmia
Orbi al pseudo umor and o her
orbi al in amma ion
In ec ious re inochoroidi is (e.g.,
oxoplasmosis, syphilis, Lyme disease,
bar onellosis)
Vasculi is or au oimmune (e.g.,
lupus, polyar eri is nodosa)
Vascular
Coa s disease (Fig. 9-33)
Re inal capillary hemangioma
Acu e sys emic hyper ension
Eclampsia
Dissemina ed in ravascular coagulaion (DIC)
Renal ailure
Neoplastic
Choroidal melanoma (Fig. 9-34)

383

Choroidal me as asis
Re inoblas oma
Miscellaneous
Bullous cen ral serous choroidopa hy
Uveal e usion syndrome
Nanoph halmos
Coloboma

HISTORY
Pa ien s experience a progressive, o en
uc ua ing loss o peripheral vision, ha is
similar o rhegma ogenous RD, bu o en
more variable in course.
Visual changes may be posi ional, caused
by shi ing subre inal uid wi h changes in
head posi ion.
I in amma ory in na ure, he condi ion may
cause pain; however, i is o en asymp oma ic.

IMPORTANT
CLINICAL SIGNS
T ere is a dome-shaped eleva ion o
he re ina, which re ains i s ransparency
(Fig. 9-35).
T e subre inal uid generally shi s o
he mos gravi y-dependen posi ion wi h
changes in he pa ien s head posi ion.

ASSO CIATED
CLINICAL SIGNS
Observe or ea ures o he underlying
cause, such as in amma ion, vascular changes,
or solid umor (see Fig. 9-34).

DIFFERENTIAL DIAGNOSIS
Rhegma ogenous RD (especially chronic
wi h small re inal break) di eren ial diagnosis

384

9 PERIPHERAL RET INAL DISEASE

Re inoschisis
Choroidal de achmen

DIAGNOSTIC EVALUATION
Fluorescein angiography: O en
shows source(s) o subre inal uid and he
na ure o he de ec causing i (see discussion under Epidemiology and E iology,
earlier).
B-scan ul rasound: T ickening o sclera
is seen in scleri is or orbi al in amma ion.

Calcif ca ion sugges s re inoblas oma.


Iden i y ea ures o choroidal umor or
hickening.
A-scan ul rasound: Shor axial leng h is
ypical o nanoph halmos.

PROGNOSIS AND
MANAGEMENT
T e prognosis varies markedly, depending on he underlying e iology. rea men
depends on he underlying cause.

Exuda ive Re inal De achmen

385

FIGURE 9-33. Exuda ive RD associa ed wi h Coa s disease (arrow). No e he subre inal lipid precipi a es
where he exuda ive RD is shallower.

FIGURE 9-34. Exuda ive RD overlying choroidal melanoma wi h re inal hemorrhages. T is smoo h, domeshaped eleva ion ex ends beyond he choroidal melanoma.

386

9 PERIPHERAL RET INAL DISEASE

CH
C
H O RO
O IDAL
ID
D AL
DE
D
E A
ACH
C H MEN
MEN

horoidal de achmen re ers o eleva ion


o he re ina and choroid by ei her accumula ion o serous uid or blood in he suprachoroidal space.

EPIDEMIOLOGY
AND ETIOLO GY
Serous choroidal de achmen is generally a secondary e ec o ano her underlying
problem.
Causes include:
Hypo ony
Wound leak
Pos glaucoma surgery
Cyclodialysis cle
In amma ion
High scleral buckle
Hemorrhagic choroidal de achmen may
occur spon aneously, in raopera ively a er
rauma, or as he resul o vascular abnormaliies such as choroidal neovasculariza ion.

HISTORY
Occurrence o a visual f eld de ec or
shadow may be gradual or sudden in onse .
T ere may be associa ed severe pain, i
hemorrhagic.

IMPORTANT
CLINICAL SIGNS
A dome-shaped eleva ion o he re ina and
choroid is no ed. T e re ina and choroid may
appear normal in every way excep or heir
rela ive posi ion wi hin he eye.
I large enough, he de achmen may
obs ruc he examiners view o he op ic

nerve and macula. I eleva ions are very large,


hey may con ac each o her in vi reous cavi y
(kissing choroidals).

ASSO CIATED
CLINICAL SIGNS
Hypo ony
Marked eleva ion o in raocular pressure
(hemorrhagic choroidals)
Vi reous hemorrhage
Re inal olds or de achmen
Shallow an erior chamber

DIFFERENTIAL DIAGNOSIS
Choroidal melanoma
Choroidal me as asis
RD
Re inoschisis
Scleral buckle

DIAGNOSTIC EVALUATION
I choroidal de achmen is associa ed wi h
hypo ony, look or he cause (e.g., gonioscopy
or cyclodialysis cle ).
B-scan ul rasonography conf rms
he diagnosis and helps dis inguish
be ween serous and hemorrhagic de achmen . I also will show evidence o
in amma ion o he sclera or orbi , and
can help dis inguish de achmen rom
neoplasm.

PROGNOSIS AND
MANAGEMENT
T e prognosis or pa ien s wi h serous
choroidal de achmen is generally avorable
i he underlying e iology can be reversed.

Choroidal De achmen

Res ora ion o normal in raocular pressure


and eradica ion o in amma ion are generally adequa e o reverse his process.
Hemorrhagic de achmen can produce
severe pain or marked eleva ion o in raocular
pressure requiring promp surgical drainage.
O herwise, he condi ion can generally be
observed and will slowly resolve.

387

I he vi reous or re ina is adheren o


an erior s ruc ures such as a ca arac wound,
vi rec omy is indica ed or else RD will occur
as he choroidal de achmen resolves.
Surgical drainage is usually recommended
or kissing choroidals, al hough he necessi y and op imal iming o his procedure are
con roversial.

388

9 PERIPHERAL RET INAL DISEASE

FIGURE 9-35. Exuda ive RD. T is de achmen exhibi ed shi ing subre inal f uid wi h change o posi ion.

Index
Note: Page numbers ollowed by f and t indicate f gures and tables, respectively.

A
ABCR. See ATP-binding transport
protein
Abetalipoproteinemia. See Bassen
Kornzweig syndrome
Acetazolamide, or retinitis
pigmentosa, 229
Achromatopsia, 312
Acquired immunodef ciency syndrome
(AIDS), 134
and intraocular lymphoma, 269
Acute ophthalmic artery obstruction,
153154, 155f
diagnostic evaluation o
electroretinography, 154
uorescein angiography, 153154
di erential diagnosis o , 153t
symptoms o , 153
Acute pancreatitis, 134
Adult oveomacular dystrophy, 3
Adult vitelli orm dystrophy, 50
Aneurysms, 172, 295, 299
chroidal, 19
intraretinal, 251f
macro, 172, 173
micro, 101f102f, 105, 108f109f,
117f, 158, 161f, 166, 172, 182,
188f, 194f, 294, 297f
Age-related eye disease study (AREDS), 4
Age-related macular degeneration
(AMD), 68
atrophic, 14f15f
basal laminar deposits, 2
basal linear deposits, 2
with calcif c drusen, 2
causes o , 2
clinical signs o , 3
with CNV, 64, 65
diagnosis o , 3
di erential diagnosis o , 3
disci orm scar o , 271
drusen, 2, 5f
dry/ nonexudative, 116
epidemiology o , 1, 2
exudative, 1743, 21f24f
uorescein angiographic pa ern, 23
with ocal hyperpigmentation, 4
undus biomicroscopy images, 2, 3
history o , 2
irregular granular appearance in, 2
management o , 34
with multiple drusen, 2
OCT o , 3
pathology o , 2

prognosis or, 34
wet or exudative, 1, 1743, 21f24f,
40f43f
AIDS. See Acquired immunodef ciency
syndrome
Albinism, 223227, 224f
causes o , 223
classif cation o , 223
clinical signs o , 223
diagnostic evaluation o , 224
epidemiology o , 223
emale carrier, 226f
oveal hypoplasia, 225f
HermanskyPudlak syndrome, 227f
histology o , 223224
management o , 224
ocular, 223
oculocutaneous, 223, 227f
prognosis or, 224
true, 223
Albinoidism, 223
Allelic inactivation, 243
Alports syndrome, 294
AMD. See Age-related macular
degeneration
Amelanotic choroidal melanoma, 78,
264, 267, 269, 271
Amsler grids, 3, 16f, 17
o macular epiretinal membranes, 45
scotoma ormation and, 341
Anemia, 72, 96, 316, 321
severe, 134
Angiographic CME, 60
Angioid streaks, 7277, 73f77f, 316
causes o , 72
clinical signs o , 72
diagnostic evaluation o , 7273
di erential diagnosis o , 72
epidemiology o , 72
uorescein angiography or, 72
history o , 72
idiopathic, 72
laser photocoagulation or, 73
management o , 73
mani estations in, 73
ocular photodynamic therapy or, 73
prognosis or, 73
sa ety glasses or, 73
Angiomatosis retinae. See Retinal
capillary hemangioma
Anterior ischemic optic neuropathy,
142143, 144f
Antiplatelet therapy, or ocular ischemic
syndrome, 159

Antithrombin III def ciency, 134, 143,


145, 150, 167
Anti-VEGF injection therapy, 20,
40f43f
AREDS. See Age-related eye disease
study
Arteriolar a enuation, 230f231f,
233, 312
Astrocytic hamartoma, 240242, 242f
causes o , 240
clinical signs o , 240241
diagnostic evaluation o , 241
di erential diagnosis o , 241
epidemiology o , 240
history o , 240
prognosis or, 241
management o , 241
ATP-binding transport protein
(ABCR), 203
Atrophic AMD, 14f15f
Atrophic retinal break, 346, 351f
Atrophy o RPE, 2, 218f
Avulsed vitreous base, 318, 318f
causes o , 318
clinical signs o , 318
diagnostic evaluation o , 318
di erential diagnosis o , 318
epidemiology o , 318
history o , 318
nasal, 318f
prognosis or, 318
management o , 318

B
BardetBiedl syndrome, 234
Basal laminar deposits, in dry agerelated macular degeneration, 2
Basal laminar drusen, 1, 6f
Basal linear deposits, in dry age-related
macular degeneration, 2
BassenKornzweig syndrome, 233
Ba en disease. See Neuronal ceroid
lipo uscinosis
BB pellet, 331
Beaten bronze appearance, in Stargardts
disease, 203, 206f207f
Bests disease, 3, 189194
causes o , 189
clinical signs o
end stage, 190
previtelli orm stage, 189
pseudohypopyon stage, 189190
vitelli orm stage, 189
vitelliruptive stage, 190

389

3 9 0 In d e x
Bests disease (continued)
diagnostic evaluation o , 190
epidemiology o , 189
management o , 190
prognosis or, 190
pseudo, 194f
pseudohypopyon stage, 192f
vitelli orm stage, 189, 191f
vitelliruptive stage, 193f
Bevacizumab, 20, 98, 111f, 131f,
137, 276
Black sunburst lesion, in sickle cell
retinopathy, 178, 179f
BlochSulzberger syndrome. See
Incontinentia pigmenti
Blot hemorrhages, in nonproli erative
diabetic retinopathy, 95
Blurred vision, 259, 264
Bournevilles disease. See Astrocytic
hamartoma
Brachytherapy, and radiation
retinopathy, 182, 186f
Branch retinal artery obstruction,
146f148f
causes o , 145
cholesterol (Hollenhorst plaque)
in, 145
clacif c, 145
clinical signs o , 145
diagnostic evaluation o , 145
di erential diagnosis o , 145
epidemiology o , 145
f brinplatelet in, 145
undus changes in, 145
management o , 146
pathophysiology o , 145
prognosis or, 146
pupillary changes in, 145
visual acuity in, 145
Branch retinal vein obstruction,
163165, 165f
causes o , 163
clinical signs o , 163
diagnostic evaluation o , 163
di erential diagnosis o , 163
epidemiology o , 163
management o , 163164
laser photocoagulation, or
macular edema, 163164
ranibizumab therapy, or macular
edema, 164
sector laser PRP, 164
pathophysiology o , 163
prognosis or, 163164
Branch Vein Occlusion Study, 164
Bruchs membrane, 1, 2, 17, 259, 316
Bulls-eye maculopathy, 195,
196f197f, 203, 234235,
341, 342f
in cone dystrophy, 195, 196f197f

di erential diagnosis o , 203


in Stargardts disease, 203, 207f

C
Calcif ed drusen, 1
Canthaxanthin toxicity, 338
CAR. See Carcinoma-associated
retinopathy syndrome
Carcinoma-associated retinopathy
(CAR) syndrome, 236239,
238f, 239f
causes o , 236
clinical signs o , 236
cone dys unction, 236
undus eatures, 236
rod dys unction, 236
diagnostic evaluation o , 236237
di erential diagnosis o , 236
epidemiology o , 236
history o , 236
management o , 237
prognosis or, 237
Carotid arteriography, 159
Carotid artery stenosis, 159t
Carotid, blockage o , 158
CAR syndrome. See Carcinomaassociated retinopathy
syndrome
Cataract surgery
choroidal detachment a er, 387
cystoid macular edema a er,
6061
Cataracts, in nonproli erative diabetic
retinopathy, 96
Cellophane maculopathy. See Macular
epiretinal membrane
Central retinal artery obstruction, 134,
143, 145, 151f, 153154, 156
acute, 150, 151f
calcif c, 149
causes o , 149
cholesterol (Hollenhorst plaque)
in, 149
clinical signs o , 149
with cilioretinal arterial sparing,
149, 151f
diagnostic evaluation o , 149
di erential diagnosis o , 149
digital massage o globe and anterior
chamber or, 150
electroretinography or, 149
epidemiology o , 149
f brinplatelet in, 149
undus changes in, 149
intravenous uorescein angiography
o , 149
laser panretinal photocoagulation
(PRP) or, 150
management o , 150
pathophysiology o , 149

prognosis or, 150


pupillary changes in, 149
superf cial retinal whitening in, 149
visual acuity in, 149
Central retinal vein obstruction, 142,
156, 158, 166171
causes o , 166
clinical signs o , 166
diagnostic evaluation o , 166167
di erential diagnosis o , 166, 167t
epidemiology o , 166
ischemic, 166167, 169f171f
nonischemic, 166, 168f
pathophysiology o , 166
management o , 167
prognosis or, 167
Central serous choroidopathy, 64
bullous, 383
Central serous retinopathy (CSR), 19,
50, 7888, 79f88f, 267, 268f
anti-VEGF therapy, 79
causes o , 78
clinical signs o , 78
diagnostic evaluation o , 7879
di erential diagnosis o , 78
di use abnormality o retinal
pigment epithelium in, 78
epidemiology o , 78
uorescein angiography or, 7879
gu ers o retinal pigment epithelial
alterations, 78
history o , 78
laser photocoagulation or, 79
management o , 79
prognosis or, 79
retinal pigment epithelium
detachment in, 78
smokestack appearance in, 79
type A personality and, 78
yellow spots, 78
ChdiakHigashi syndrome, and
albinism, 223
Cherry red spot
in acute ophthalmic artery
obstruction, 153
in central retinal artery obstruction,
149, 151f
in combined retinal artery and vein
obstruction, 157f
Chloroquine retinopathy, 341342,
342f
clinical signs o , 341
diagnostic evaluation o , 341
di erential diagnosis o , 341
epidemiology o , 341
history o , 341
management o , 341
prognosis or, 341
subtle para oveal retinal pigment
epithelial alterations, 342

In d e x 391
Chorioretinal coloboma, 300303,
301f, 302f
causes o , 300
clinical signs o , 300
diagnostic evaluation o , 300
di erential diagnosis o , 300
epidemiology o , 300
history o , 300
management o , 300
prognosis or, 300
and rhegmatogenous retinal
detachment, 303f
Chorioretinal scarring, 89, 92, 332f
Chorioretinitis sclopetaria, 331332
causes o , 331
clinical signs o , 331
diagnostic evaluation o , 331
di erential diagnosis o , 331
epidemiology o , 331
history o , 331
management o , 331
prognosis or, 331
retinal whitening and preretinal
hemorrhage, 332f
Choroidal detachment, 384,
386388
causes o , 386
clinical signs o , 386
diagnostic evaluation o , 386
di erential diagnosis o , 386
epidemiology o , 386
history o , 386
management o , 386387
prognosis or, 386387
Choroidal olds, 45, 8991, 90f91f
causes o , 89
clinical signs o , 89
crests o olds, 89
diagnostic evaluation o , 89
di erential diagnosis o , 89
epidemiology o , 89
uorescein angiography or, 89
history o , 89
Choroidal granuloma, 265
Choroidal hemangioma, 267268
circumscribed type, 259, 264, 268 ,
271f
clinical signs o , 267
diagnostic evaluation o , 267
di erential diagnosis o , 267
di use type, 267
epidemiology o , 267
history o , 267
management o , 268
prognosis or, 268
Choroidal mass, di erential diagnosis
o , 271
Choroidal melanocytoma, 262, 263f
clinical signs o , 262
diagnostic evaluation o , 262

di erential diagnosis o , 262


epidemiology o , 262
history o , 262
management o , 262
prognosis or, 262
Choroidal melanoma, 259261, 261f
amelanotic, 78
branchytherapy or, 182, 186f, 247,
255
causes o , 259
clinical signs o , 259
diagnostic evaluation o , 260
di erential diagnosis o , 259
epidemiology o , 259
history o , 259
malignant, 252, 258f
management o
ocular, 260
systemic, 260
prognosis or, 260
Choroidal metastasis, 259, 264266,
266f, 269, 383, 386
causes o , 264
clinical signs o , 264
diagnostic evaluation o , 265
di erential diagnosis o , 264265
epidemiologyo , 264
history o , 264
management o , 265
prognosis or, 265
Choroidal neovascularization (CNV),
13f, 45, 60, 69f, 74f, 175176,
190, 255, 259, 267, 271, 316,
317f, 386
and angioid streaks, 72, 74f75f
choroidal olds, 89
classic, 18, 21f
CSR in, 78
in degenerative myopia, 67,
68f71f
and dry age-related macular
degeneration, 3, 3t
and exudative age-related macular
degeneration, 17
f brovascular pigment epithelial
detachment, 18
occult, 18, 25f28f
polypoidal, 64
recurrent, a er laser therapy, 39f
in wet (exudative) AMD, 1718
Choroidal neovascular membrane,
50, 176
Choroidal nevus, 257258, 258f
clinical signs o , 257
diagnostic evaluation o , 257
di erential diagnosis o , 257
epidemiology o , 257
history o , 257
management o , 257258
prognosis or, 257258

Choroidal osteoma, 271272, 272f


causes o , 271
clinical signs o , 271
diagnostic evaluation o , 271
di erential diagnosis o , 271
epidemiology o , 271
history o , 271
management o , 271
prognosis or, 271
Choroidal rupture, 316317
causes o , 316
clinical signs o , 316
crescent-shaped lesion, 317f
diagnostic evaluation o , 316
di erential diagnosis o , 316
epidemiology o , 316
history o , 316
management o , 316
prognosis or, 316
traumatic, 72
Choroidal tumors, 20, 89, 92, 260, 265,
271, 384
Choroideremia, 210214
causes o , 210
clinical signs o , 210
diagnostic evaluation o , 210
di erential diagnosis o , 210
early, 213f
epidemiology o , 210
history o , 210
late, 214f
prognosis and management o , 211
retinal pigment epithelial loss, 212f
Choroiditis, multi ocal, 269
Choroidopathy, hypertensive, 136
Chronic submacular uid, 19, 21f
CHRPE. See Congenital hypertrophy o
the retinal pigment epithelium
Cicatricial retinopathy o prematurity,
275, 281f
Cilioretinal artery obstruction,
142144, 144f
causes o , 142
clinical signs o , 142
diagnostic evaluation o , 143
di erential diagnosis o , 143
epidemiology o , 142
management o , 143
pathophysiology o , 142
prognosis or, 143
Cilioretinal artery sparing, in central
retinal artery obstruction,
149, 151f
Circumscribed choroidal hemangioma,
78, 259, 264, 268f, 271
Classic choroidal neovascularization,
18, 21f24f, 29f30f
Clinically signif cant macular edema
(CSME), 96t
Cluster o grapes appearance, 250, 251f

3 9 2 In d e x
CME. See Cystoid macular edema
CNS lymphoma, 269
CNV. See Choroidal neovascularization
Coats disease, 96, 172, 229, 244,
294299, 297f
aneurysmal dilation and hemorrhage,
298f, 299f
causes o , 294
clinical signs o , 294
diagnostic evaluation o , 295
di erential diagnosis o , 294295
epidemiology o , 294
and exudative retinal detachment,
297f
uorescein angiogram o , 298f
history o , 294
intraretinal hemorrhages, 296f
pathophysiology o , 294
management o , 295
prognosis or, 295
Cobblestone degeneration, 376, 377f
causes o , 376
clinical signs o , 376
diagnostic evaluation o , 376
di erential diagnosis o , 376
epidemiology o , 376
history o , 376
management o , 376
prognosis or, 376
Cockaynes syndrome, 233
Color vision, 7879, 190, 195, 198, 203,
236, 341
Combined central retinal artery and vein
obstruction, 156157, 157f
Combined hamartoma o retina and
retinal pigment epithelium, 45,
252, 255256, 256f, 259, 262
Commotio retinae, 314315, 315f
clinical signs o , 314
diagnostic evaluation o , 314
di erential diagnosis o , 314
epidemiology o , 314
history o , 314
management o , 314
prognosis or, 314
Cone dys unction, 236
Cone dystrophy, 195197, 196f197f
causes o , 195
clinical signs o , 195
diagnostic evaluation o , 195
di erential diagnosis o , 195
epidemiology o , 195
history o , 195
management o , 195
prognosis or, 195
Con uent drusen, 6f, 11f12f
Congenital and pediatric retinal
diseases
causes o , 273
clinical signs o , 274

diagnostic evaluation o , 273274


epidemiology o , 273
history o , 273
Congenital grouped pigmentation,
252
Congenital hypertrophy o the retinal
pigment epithelium (CHRPE),
252, 253f
causes o , 252
clinical signs o , 252
def nition o , 252
diagnostic evaluation o , 252
di erential diagnosis o , 252
epidemiology o , 252
history o , 252
multi ocal, 252
management o , 252
prognosis or, 252
solitary, 252
Congenital oculodermal melanocytosis,
259
Congenital stationary night blindness
(CSNB), 219222, 220f
causes o , 219
classif cation o , 219
clinical signs o , 219
diagnostic evaluation o , 219
di erential diagnosis o , 219
epidemiology o , 219
undus albipunctatus, 219
history o , 219
management o , 219
prognosis or, 219
Contact lens, 45, 95, 96, 329, 336, 347,
357, 372, 380
Cornea, in nonproli erative diabetic
retinopathy, 96
Co on-wool spots, 133135, 135f
causes o , 133
clinical signs o , 133
in coagulopathies, 134
in diabetic retinopathy, 134
diagnostic evaluation o , 134
di erential diagnosis o , 133
in embolic disorders, 134
epidemiology o , 133
undus changes, 133
management o , 134
in nonproli erative diabetic
retinopathy, 95, 103f
pathophysiology o , 133
prognosis or, 134
pupillary changes, 133
in retinal vein obstruction, 107f, 134
in systemic arterial hypertension,
134
visual acuity, 133
Cranial nerve palsy, and
nonproli erative diabetic
retinopathy, 96

Cryotherapy, 275, 347, 358


or retinal tears and breaks, 347
or retinopathy o prematurity, 275,
280f
or rhegmatogenous retinal
detachment, 358
CSME. See Clinically signif cant
macular edema
CSNB. See Congenital stationary night
blindness
CSR. See Central serous retinopathy
Cystoid macular edema (CME), 19, 45,
50, 6063, 62f63f
angiographic, 60
anti-VEGF therapy or, 61
causes o , 60
clinical signs o , 60
diagnostic evaluation o , 60
di erential diagnosis o , 60
epidemiology o , 60
uorescein angiography or, 60
history o , 60
management o , 61
Nd:YAG laser vitreolysis or, 61
NSAIDs or, 61
prognosis or, 61
slit-lamp biomicroscopy or, 60
surgery or, 61
Cytomegalovirus retinitis (CMV),
269
Cytologic f ndings, 264

D
DCCT. See Diabetes Control and
Complications Trial (DCCT)
Degenerative myopia, 6771, 68f71f
anti-VEGF therapy or, 68
causes o , 67
clinical signs o , 67
CNV lesions in, 68
diagnostic evaluation o , 68
di erential diagnosis o , 6768
epidemiology o , 67
uorescein angiography or, 68
history o , 67
laser photocoagulation or, 68
management o , 68
ocular photodynamic therapy
or, 68
ophthalmoscopy or, 68
prognosis or, 68
scleral rein orcement and resection
techniques, 68
Degenerative retinoschisis, 380382
causes o , 380
clinical signs o , 380
diagnostic evaluation o , 380
di erential diagnosis o , 380
epidemiology o , 380
history o , 380

In d e x 393
management o , 380
outer wall breaks, 382f
peripheral retinoschisis, 381f
prognosis or, 380
Dental abnormalities, 284
Diabetes Control and Complications
Trial (DCCT), 97t
Diabetic macular edema, 60
Diabetic papillopathy
causes o , 132
clinical signs o , 132
diagnostic evaluation o , 132
di erential diagnosis o , 132
disc swelling, 132
epidemiology o , 132
uorescein angiography or, 132
history o , 132
management o , 132
papillary de ect, 132
prognosis or, 132
visual loss, 132
Diabetic retinopathy. See also
Proli erative diabetic
retinopathy (PDR)
causes o , 94
and co on-wool spots, 95
epidemiology o , 94
history o , 95
hyperglycemia and, 94
loss o pericytes in, 95
mechanism o development,
9495
nonproli erative, 9598
pathophysiology o , 9495
thickening o retinal capillary
basement membranes, 95
Diabetic Retinopathy Clinical Research
(DRCR), 97t
Diabetic retinopathy study (DRS),
112t, 114f
DIC. See Disseminated intravascular
coagulation
Di use choroidal hemangioma, 267
Disci orm scar, with exudative age-related
macular degeneration, 17, 19,
21f, 271
Dislocated lens, 336337, 337f
blunt ocular trauma, history o ,
336
clinical signs o , 336
diagnostic evaluation o , 336
di erential diagnosis o , 336
epidemiology o , 336
management o , 336
prognosis or, 336
Disseminated intravascular coagulation
(DIC), 383
DRCR. See Diabetic Retinopathy
Clinical Research
DRS. See Diabetic retinopathy study

Drusen
basal laminar, 6f
choroidal neovascularization and,
3, 3t
con uent, 6f
di erential diagnosis o , 3, 198
in dry age-related macular
degeneration, 14, 5f7f,
10f13f
hard, 7f
large, 5f
multiple large, 11f13f
Drusenoid pigment epithelial
detachments, 2, 10f
Dry (nonexudative) AMD, 116
central vision, 2
geographic atrophy, 1
retinal pigment epithelial
abnormalities, 1
subretinal pigment epithelial
deposits, 1
therapies or, 4
Dystrophy(ies)
adult oveomacular, 3
cone, 195197, 196f197f
pa ern, 3, 198202, 199f201f
retinal, 189239

E
Early Treatment Diabetic Retinopathy
Study (ETDRS) guidelines,
97, 97t
Ecchymosis, 323, 336
Edema
macular
clinically signif cant, 96, 96t
cystoid, 19
in nonproli erative diabetic
retinopathy, 95, 97t, 103f
retinal, in retinal artery
macroaneurysm, 172173
EhlersDanlos syndrome, and angioid
streaks, 72, 336
Electroretinography, 154, 159, 167,
229, 307
Elsching spots. See Hypertensive
choroidopathy
Emboli
retinal, 338
retinal intra-arterial, 142, 145
End-stage
o Bests disease, 190
geographic atrophy, 9f
Endarterectomy, or ocular ischemic
syndrome, 159, 159t
Enucleation, 244245, 248, 260,
262, 295
Epidermal nevus syndrome, 294
ETDRS. See Early Treatment Diabetic
Retinopathy Study guidelines

Extraretinal f brovascular proli eration


(ERFP), 274
Exudative AMD, 14, 1720, 21f, 22f,
23f, 24f, 40f, 41f, 42f, 43f
Exudative maculopathy, 19
Exudative retinal detachment, 383
categories, 383
causes o , 383
choroidal melanoma, 385f
clinical signs o , 383
with Coats disease, 385f
diagnostic evaluation o , 384
di erential diagnosis o , 383384
epidemiology o , 383
history o , 383
prognosis and management o , 384

F
FA. See Fundus albipunctatus
Fabrys disease, 143, 145, 150, 154,
156
Factor V Leiden mutation, 134
Familial exudative vitreoretinopathy
(FEVR), 275, 289293, 290f,
291f
causes o , 289
clinical signs o , 289
diagnostic evaluation o , 289
di erential diagnosis o , 289
epidemiology o , 289
history o , 289
management o , 289290
prognosis or, 289290
retinal dragging, 292f
rhegmatogenous retinal detachment,
293f
Fascio-scaspulohumeral dystrophy,
294
Female carriers, 210, 211, 223, 226f,
229f
FEVR. See Familial exudative
vitreoretinopathy
Fibromuscular hyperplasia, 143, 145,
150, 154, 156
Fibrosis, 19
Fibrotic submacular scarring, 19
Fibrovascular pigment epithelial
detachment, 18
Flame-shaped hemorrhages, in
nonproli erative diabetic
retinopathy, 95
Fleck retina o Kandori, 219
Fluorescein angiography, 18, 187, 190,
195, 241
age-related macular degeneration
(AMD), 23
angioid streaks, 72
o carcinoma metastatic, 265
central serous retinopathy (CSR),
7879

3 9 4 In d e x
Fluorescein angiography (continued)
choroidal olds, 89
cystoid macular edema (CME), 60
degenerative myopia, 68
hypotony maculopathy, 92
intravenous, 172
macular epiretinal membrane, 45
nonproli erative diabetic retinopathy
(NPDR), 96
polypoidal choroidal vasculopathy
(PCV), 64
vitreomacular traction syndrome
(VMTS), 58
Focal hyperpigmentation, in dry agerelated macular degeneration
(AMD), 1, 2, 7f
4-2-1 Rule, 96t
Foveal aplasia/ hypoplasia, 223
Foveal hypoplasia, 223, 225f, 284
Foveal schisis, and juvenile X-linked
retinoschisis, 307, 309f, 311f
Frank geographic atrophy, 1, 2, 4
Friedreichs ataxia, 235
Fuchs spots, in degenerative myopia,
67
Fundus albipunctatus (FA), 219, 220f
Fundus biomicroscopy, 2, 3, 17, 18,
19, 187
Fundus avimaculatus, 203
Fundus pulverulentus, 198, 202f

G
Gardners syndrome, 252, 254f, 378,
379f
Gass classif cation o idiopathic macular
hole, 49, 49t
Genetic analysis, o peripherin/ RDS
gene, 198
Genetic counseling, retinoblastoma
and, 245
Genetic de ects, retinal diseases
associated with, 228
Genetic testing, o children, 244
Geographic atrophy, in dry age-related
macular degeneration, 1, 2,
14f15f
Germinal, children with, 241
Giant cell arteritis, 134, 142, 143, 145,
146, 149, 150, 153, 156, 158
Giant retinal tear, 346, 352f
Glaucoma, and nonproli erative
diabetic retinopathy, 96
Goldmann perimetry, or retinitis
pigmentosa, 230
Granularity o the RPE, 2
Granuloma, choroidal, 265, 269
Grid laser photocoagulation, or branch
retinal vein obstruction, 164
GrnbladStrandberg syndrome, and
angioid streaks, 72

Gyrate atrophy, 68, 210, 215218,


217f218f
causes o , 215
clinical signs o , 215
diagnostic evaluation o , 215216
di erential diagnosis o , 215
epidemiology o , 215
history o , 215
management o , 216
prognosis or, 216

H
HagbergSantavuori disease, 234
Hamartoma
astrocytic, 240242, 242f
o retina and retinal pigment
epithelium, 58
Haradas disease, 78, 383
Hard drusen. See Small drusen
Hard yellow exudates (HYE), in
nonproli erative diabetic
retinopathy, 100f103f
Helicobacter pylori in ection, 78
Hemangioma
choroidal, 267268, 268f
circumscribed choroidal, 267,
268f
optic disc, 248
retinal capillary, 247249, 249f
retinal cavernous, 250251, 251f
Hemoglobinopathies, 96
Hemorrhage
blot, in nonproli erative diabetic
retinopathy, 95
ame-shaped, in nonproli erative
diabetic retinopathy, 95
intraretinal, in nonproli erative
diabetic retinopathy, 95
premacular, 190, 194f
in retinal artery macroaneurysm, 172
salmon patch, in sickle cell
retinopathy, 178
submacular, 19, 38f
subretinal, and angioid streaks, 72,
74f76f
vitreous, in proli erative diabetic
retinopathy, 112, 121f, 122f
Hemorrhagic choroidal detachment,
386
Heredopathia atactica
polyneuriti ormis. See Re sums
disease
HermanskyPudlak syndrome, 223,
224, 227f
Hollenhorst plaque
in branch retinal artery obstruction,
145
in central retinal artery obstruction,
149, 152f
in cilioretinal artery obstruction, 142

Homocysteinuria, and dislocated lens,


336
Horseshoe retinal tear, 346, 349f, 350f
Hunters disease, 234
Hurlers disease, 234
Hydroxychloroquine retinopathy,
341342
HYE. See Hard yellow exudates
Hyperopia, 89, 92
Hyperplasia, reactive, o retinal pigment
epithelium, 255
Hypertension, and co on-wool spots,
133
Hypertensive choroidopathy, 136
Hypertensive retinopathy, 96, 136141,
138f141f
clinical signs o , 136
diagnostic evaluation o , 137
di erential diagnosis o , 136
epidemiology o , 136
grades o , 136
intravitreal VEGF-A inhibitor
therapy or, 137
KeithWagenerBarker classif cation
o , 136
laser therapy or, 137
management o , 137
pathophysiology o , 136
prognosis or, 137
Hypertrophy, congenital, o retinal
pigment epithelium, 252254,
253f254f
Hyperviscosity syndrome, 167
Hypomelanotic macules, 241
Hypoplasia, oveal, 225f
Hypotension, 134, 143, 145, 150
Hypotony, 89, 92
Hypotony maculopathy, 92, 93f
causes o , 92
chorioretinal olds in, 92
clinical signs o , 92
diagnostic evaluation o , 92
epidemiology o , 92
uorescein angiography or, 92
history o , 92
intraocular pressure in, 92
macular leakage in, 92
macular retina in, 92
management o , 92
optic disc hyper uorescence, 92
peripapillary choroid in, 92
prognosis or, 92
surgery or, 92

I
ICROP. See International Classif cation
o ROP
Idiopathic juxta oveal telangiectasis, 96
Idiopathic macular hole, 4950, 51f57f
Amsler grid testing o , 49

In d e x 395
causes o , 49
clinical signs o , 4950
diagnostic evaluation o , 50
di erential diagnosis o , 50
epidemiology o , 49
Gass classif cation o stages, 49
history, 49
management o , 50
negative prognostic indicators, 50
OCT and, 50
prognosis or, 50
stages o development, 49t
surgery or, 50
tangential vitreoretinal traction
and, 49
vitrectomy or, 50
WatzkeAllen sign in, 50
Idiopathic retinal vasculitis, aneurysms,
and neuroretinitis (IRVAN),
172
Incontinentia pigmenti, 284288, 285f
causes o , 284
clinical signs o , 284
dental f ndings, 288f
dermatologic f ndings, 286f, 287f
diagnostic evaluation o , 284
di erential diagnosis o , 284
epidemiology o , 284
uorescein angiogram o , 286f
history o , 284
management o , 285
prognosis or, 285
Indocyanine green angiography, 18, 19,
35f, 64, 265, 267
Inter eron therapy, 134
International Classif cation o ROP
(ICROP), 274t
Intraocular oreign body (IOFB),
333335, 335f
causes o , 333
clinical signs o , 333
diagnostic evaluation o , 333
di erential diagnosis o , 333
epidemiology o , 333
history o , 333
management o , 333334
prognosis or, 333334
Intraocular lymphoma, 269270,
270f
causes o , 269
clinical signs o , 269
diagnostic evaluation o , 270
di erential diagnosis o , 269
epidemiology o , 269
history o , 269
management o , 270
prognosis or, 270
Intraretinal hemorrhages, in
nonproli erative diabetic
retinopathy, 95

Intraretinal microvascular abnormality


(IRMA), in nonproli erative
diabetic retinopathy, 95, 105f
Intraretinal pigment clumps, 2
Intravenous drug abuse (chronic), 134
Intravenous uorescein angiography,
156, 159, 182
Intravitreal VEGF-A inhibitor therapy
hypertensive retinopathy, 137
IOFB. See Intraocular oreign body
Iridescent spot, in sickle cell
retinopathy, 178
Iris neovascularization, in proli erative
diabetic retinopathy, 112, 120f
IRMA. See Intraretinal microvascular
abnormality
IRVAN. See Idiopathic retinal vasculitis,
aneurysms, and neuroretinitis
IrvineGass syndrome, 60, 175
Ischemia, macular, in proli erative
diabetic retinopathy, 113

J
JanskyBielschowsky disease, 234
Juvenile retinoschisis, 380
Juvenile X-linked retinoschisis,
307308
causes o , 307
clinical signs o , 307
diagnostic evaluation o , 307
di erential diagnosis o , 307
epidemiology o , 307
oveal schisis, 309f
history, 307
in erior retinoschisis, 311f
management o , 308
peripheral retinoschisis, 310f
prognosis or, 308
rhegmatogenous retinal detachment,
311f
Juxta oveal lesions, 255
Juxta oveal telangiectasis. See Para oveal
telangiectasis
Juxtapapillary capillary hemangioma,
247

K
Kandori, eck retina o , 219
KearnsSayre syndrome, 234
Kissing choroidals, 386, 387
Kline elter syndrome, 284
KUFS disease, 235

L
Lacquer cracks, in degenerative
myopia, 67
Large drusen, 13, 5f, 198
Largest basal tumor diameter (LTD),
260

Laser panretinal photocoagulation


(PRP), 150
Laser photocoagulation. See also
Panretinal photocoagulation
or branch retinal vein obstruction,
163164
or central retinal artery obstruction,
150
or central retinal vein obstruction,
167
or central serous retinopathy, 79
or combined retinal artery and vein
obstruction, 157
or degenerative myopia, 68
or exudative age-related macular
degeneration, 20, 39f
guidelines or use, 97t
or nonproli erative diabetic
retinopathy, 97, 97t
or proli erative diabetic retinopathy,
112113, 125f
or retinal tears and breaks, 347,
354f356f
or retinopathy o prematurity, 276
or rhegmatogenous retinal
detachment, 358
Laser therapy, 175
La ice degeneration, 372373
causes o , 372
clinical signs o , 372
diagnostic evaluation o , 372
di erential diagnosis o , 372
epidemiology o , 372
history, 372
horseshoe tear and RD, 373f
pigmented, 373f
prognosis and management o ,
372
LaurenceMoon syndrome, 234
Lebers congenital amaurosis, 312313,
313f
causes o , 312
clinical signs o , 312
diagnostic evaluation o , 312
di erential diagnosis o , 312
epidemiology o , 312
history o , 312
management o , 312
prognosis or, 312
Lens
contact, 347, 357, 372
dislocated, 336337, 337f
Leptospirosis, 134
Leukemia, 96
Leukokoria, 245f
di erential diagnosis o , 244
and retinoblastoma, 243244, 245f
Lipemia retinalis, 187188, 188f
clinical signs o , 187
diagnostic evaluation o , 187

3 9 6 In d e x
Lipemia retinalis (continued)
di erential diagnosis o , 187
management o , 187
pathophysiology o , 187
prognosis or, 187
Lipid exudation, 19
Lipoprotein exudation, in
nonproli erative diabetic
retinopathy, 95
Liver enzymes, measurement o , 260
LTD. See Largest basal tumor diameter
Lupus anticoagulant syndrome, 134,
143, 145, 150
Lyme disease, 134, 143, 145, 150
Lymphoma, intraocular, 269270, 270f

M
Macroaneurysm, retinal artery,
172174, 174f
Macula-o RDs, 358
Macular branch vein, 163
Macular degeneration, age-related.
See Age-related macular
degeneration
Macular diseases, 4493
Macular edema, 19, 183
clinically signif cant, 96, 96t
cystoid, 6063, 62f63f
in nonproli erative diabetic
retinopathy, 95, 96t, 97t
Macular epiretinal membrane, 4448,
46f48f, 58
Amsler grid testing o , 45
causes o , 44
clinical signs o , 45
diagnosis o , 45
di erential diagnosis o , 45
epidemiology o , 44
in emales, 44
uorescein angiography or, 45
history o , 44
idiopathic, 44
in males, 44
management o , 45
OCT or, 45
posterior vitreous detachment
(PVD) in, 44
prognosis or, 45
retinal break ormation and trauma
in, 44
slit-lamp biomicroscopy o , 45
Macular hole, 45
idiopathic, 4957, 49t, 51f57f
traumatic, 329330, 330f
Macular ischemia, in proli erative
diabetic retinopathy, 113
Macular pucker. See Macular epiretinal
membrane
Macular scarring, and angioid streaks,
75f

Maculopathy
bulls eye, 195, 196f197f, 203, 207f,
341, 342f
hypotony, 9293, 93f
solar, 319, 319f
Magnetic resonance angiography
(M ), 159
Mar ans syndrome, 336
Melanocytoma, 255
choroidal, 262263, 263f
Melanoma, choroidal, 259261, 261f
and exudative retinal detachment,
385f
Meridional old, 374375, 375f
Metastasis, choroidal, 264266, 266f
Metastatic carcinoma, 134
Methylphenidate, 338
Microaneurysms, in nonproli erative
diabetic retinopathy, 95, 101f
Migraine, 134, 143, 145, 150
MizuoNakamura phenomenon, 221,
222f
M . See Magnetic resonance
angiography
Mucopolysaccharidoses, 234
Muscular dystrophy, 294
Myopia, degenerative, 6771, 68f71f

N
Necrotic tears o retina, 347
Neovascularization elsewhere (NVE),
112
in proli erative diabetic retinopathy,
112, 116f119f
and vitreous hemorrhage, 112
Neovascularization o the disc (NVD),
112
and diabetic papillopathy, 132
in proli erative diabetic retinopathy,
112, 114f115f, 118f
and vitreous hemorrhage, 112
Neovascularization o the iris (NVI)
in branch retinal vein obstruction,
163
in central retinal artery obstruction,
150
in central retinal vein obstruction, 166
in combined retinal artery and vein
obstruction, 157
in ocular ischemic syndrome, 158
in proli erative diabetic retinopathy,
112, 113t
Neuroimaging, 325
Neuronal ceroid lipo uscinosis,
234235
Nevus, choroidal, 257258, 258f
Ni edipine, 137
Night blindness
congenital stationary, 219220, 220f
in retinitis pigmentosa, 228

Nolvadex. See Tamoxi en


Nonarteritic ischemic optic neuropathy
(AION), 132
Nonexudative age-related macular
degeneration, 116
Nongeographic atrophy, in dry agerelated macular degeneration,
1, 2, 8f
Non-Hodgkin tumor, 269
Nonproli erative diabetic retinopathy
(NPDR), 9598, 99f111f
anti-VEGF therapy or, 98
blot hemorrhages in, 95
clinical signs o , 96
co on-wool spots, 95
diagnostic evaluation o , 9697
di erential diagnosis o , 96
ETDRS guidelines or, 97
ame-shaped hemorrhages in, 95
uorescein angiography or, 96
4-2-1 rule, 96t
intraretinal hemorrhage in, 95
intraretinal microvascular
abnormality (IRMA), 95
lipoprotein exudation in, 95
macular edema in, 95
management o , 9798
microaneurysm in, 95
mild, 95, 99f102f
moderate, 95, 103f104f
OCT o , 97
prognosis or, 9798
role o laser, 97
severe, 9596, 105f106f
vision loss in, 95
NPDR. See Nonproli erative diabetic
retinopathy
NVD. See Neovascularization o the
disc
NVE. See Neovascularization
elsewhere
NVI. See Neovascularization o the iris
Nystagmus, 223, 235

O
Occlusion
acute ophthalmic artery obstruction,
153155, 153t, 155f
branch artery, 284
branch retinal vein, 163165, 165f
central retinal artery, 149152, 151f,
153t
central retinal vein, 166171, 167t,
168f171f
cilioretinal artery, 142144, 144f
combined retinal artery and vein
obstruction, 156157, 157f
Occult choroidal neovascularization,
18, 25f30f
Ocular albinism, 223

In d e x 397
Ocular ischemic syndrome, 96, 158162,
160f162f, 167t
carotid artery stenosis treatment,
outcomes, 159t
causes o , 158
clinical eatures o , 158
diagnostic evaluation o , 159
di erential diagnosis o , 158159
epidemiology o , 158
management o , 159
pathophysiology o , 158
prognosis or, 159
Ocular toxoplasmosis, 300
Ocular trauma, angioid streaks and,
73, 76f
Oculocutaneous albinism, 223, 227f
Oguchis disease, 221222
causes o , 221
clinical signs o , 221
diagnostic evaluation o , 221
epidemiology o , 221
management o , 221
MizuoNakamura phenomenon o ,
221, 222f
prognosis or, 221
Operculated retinal tear, 346, 350f
Ophthalmia, sympathetic, 383
Ophthalmic artery obstruction, acute,
153155, 155f
causes o , 153
clinical eatures o , 153
diagnostic evaluation o , 153154
di erential diagnosis o , 153t
epidemiology o , 153
management o , 154
pathophysiology o , 153
prognosis or, 154
Optical coherence tomography (OCT),
97, 314, 323, 325
Optic disc hemangioma, 248
Optic disc/ retina, neovascularization
o , 182
Optic nerve pit with neurosensory
macular retinal detachment, 78
Optic neuropathy, 182
Orbital mucormycosis, 149
Orbital tumors, 89, 92
Osteitis de ormans, and angioid
streaks, 72
Osteoma, choroidal, 271272, 272f

P
Pagets disease, and angioid streaks, 72
Panretinal photocoagulation (PRP),
112, 113t, 125f129f. See also
Laser photocoagulation
or branch retinal vein obstruction,
164
or central retinal artery obstruction,
150

or central retinal vein obstruction,


167
or combined retinal artery and vein
obstruction, 157
or ocular ischemic syndrome, 159
Papilledema, 132, 134
Para oveal telangiectasis, 175177
causes o , 175
clinical signs o , 175
diagnostic evaluation o , 175176
di erential diagnosis o , 175
epidemiology o , 175
group 2, 176f177f
management o , 176
pathophysiology o , 175
prognosis or, 176
Pars planitis, 295
Pa ern dystrophy, 3, 198202,
199f202f
causes o , 198
clinical signs o , 198
diagnostic evaluation o , 198
di erential diagnosis o , 198
epidemiology o , 198
undus pulverulentus, 202f
history o , 198
prognosis or, 198
Paving stone degeneration, 376377,
377f
PCV. See Polypoidal choroidal
vasculopathy
PDR. See Proli erative diabetic
retinopathy (PDR)
Peau dorange, 72, 75f76f
Pediatric retinal diseases, 273
Pegaptanib, 20
Peripheral cystoid degeneration,
351f
Peripheral grouped pigmentation, 378,
379f
causes o , 378
clinical signs o , 378
diagnostic evaluation o , 378
di erential diagnosis o , 378
epidemiology o , 378
Gardners syndrome, 379f
history o , 378
management o , 378
prognosis or, 378
Peripheral retinal disease, 346388
Peripheral retinoschisis, and juvenile
X-linked retinoschisis, 307,
310f
Peripheral vision problems, 228
Persistent etal vasculature (PFV), 275,
304306, 305f
Persistent hyperplastic primary vitreous
(PHPV), 304306
anterior orm, 305f
causes o , 304

clinical signs o , 304


diagnostic evaluation o , 304
di erential diagnosis o , 304
epidemiology o , 304
history o , 304
management o , 304
posterior orm, 306f
prognosis or, 304
PFV. See Persistent etal vasculature
Photodynamic therapy
or degenerative myopia, 68
or exudative age-related macular
degeneration, 20
PHPV. See Persistent hyperplastic
primary vitreous
Pigment epithelial detachment
in dry age-related macular
degeneration, 2, 10f
and exudative age-related macular
degeneration, 17
f brovascular, 18
serous, 18
Pigmented undus lesion, 254f
Pisci orm ecks, in Stargardts disease,
203, 205f
Plus disease, o retinopathy o
prematurity, 274, 280f
Pneumatic retinopexy, or
rhegmatogenous retinal
detachment, 358
Polyarteritis nodosa, 149
Polypoidal choroidal vasculopathy
(PCV), 19, 6466, 65f66f
anti-VEGF therapy or, 65
causes o , 64
clinical signs o , 64
diagnostic evaluation o , 64
di erential diagnosis o , 64
epidemiology o , 64
uorescein angiography o , 64
history o , 64
laser photocoagulation or, 65
management o , 6465
ocular photodynamic therapy or,
65
prognosis or, 6465
serosanguineous detachments in, 64
slit-lamp biomicroscopy, 64
Popcorn lesions, o retinopathy o
prematurity, 275, 278f
Posterior scleritis, 78, 89, 92
Posterior vitreous detachment (PVD),
346, 348f
and macular epiretinal membrane, 44
Pos raumatic retinal tear, 352f353f
Prednisolone acetate, 61
Premacular hemorrhage, 190, 194f
Presumed ocular histoplasmosis, 68
Previtelli orm stage, o Bests disease,
189

3 9 8 In d e x
Proli erative diabetic retinopathy
(PDR), 112113, 114f131f
chemical mediators, 112
clinical signs o , 112
macular ischemia, 113
neovascularization elsewhere
(NVE), 112
neovascularization o the disc
(NVD), 112
panretinal photocoagulation (PRP)
acts, 113t
preretinal hemorrhage in, 112
retinal detachment, treatment or,
113
treatment or, 112113
vitrectomy in, indications or, 113
vitreous hemorrhage and, 112
Proli erative vitreoretinopathy (PVR),
347, 366367
causes o , 366
classif cation o , 366t
clinical signs o , 366
diagnostic evaluation o , 366
epidemiology o , 366
f xed retinal olds, 371f
history, 366
management o , 367
prognosis or, 367
recurrent RD, 370f
retinal tear, 368f
tractional RD, 369f
Protein C def ciency, 134, 143, 145,
150
Protein S def ciency, 134, 143, 145, 150
PRP. See Panretinal photocoagulation
PseudoBests disease, 194f
Pseudohypopyon stage, o Bests
disease, 189190, 192f
Pseudoxanthoma elasticum, and
angioid streaks, 72
Purtschers retinopathy, 134, 327328,
328f
causes o , 327
clinical signs o , 327
diagnostic evaluation o , 327
di erential diagnosis o , 327
epidemiology o , 327
history o , 327
management o , 327
prognosis or, 327
PVD. See Posterior vitreous detachment
PVR. See Proli erative vitreoretinopathy
Pyridoxine, or gyrate atrophy, 216

R
Radiation optic neuropathy, a er
teletherapy, 185f
Radiation retinopathy, 96, 134,
182183
a er teletherapy, 184f185f

brachytherapy or choroidal
melanoma, 186f
causes o , 182
clinical signs o , 182
diagnostic evaluation o , 182
di erential diagnosis o , 182
epidemiology o , 182
management o , 182183
pathophysiology o , 182
prognosis or, 182183
Radiation therapy, 268
Ranibizumab, 20, 98, 137, 164
PD. See Relative a erent papillary
de ect
Rb. See Retinoblastoma
Rb gene, 243
RD. See Rhegmatogenous retinal
detachment
Reactive hyperplasia, o retinal pigment
epithelium, 255
Reddish-brown papular rash, 241
Re sums disease, 233
Relative a erent papillary de ect
( PD), 262
Reticulum cell sarcoma. See Intraocular
lymphoma
Retina, hamartoma o , combined with
hamartoma o retinal pigment
epithelium, 255256, 256f
Retinal arterial macroaneurysm,
172174, 174f
clinical signs o , 172
diagnostic evaluation o , 172
di erential diagnosis o , 172
epidemiology o , 172
management o , 172173
pathophysiology o , 172
prognosis or, 172173
Retinal artery, central
and vein obstruction, combination,
156157, 157f
causes o , 156
clinical signs o , 156
diagnostic evaluation o , 156
di erential diagnosis o , 156
epidemiology o , 156
management o , 157
pathophysiology o , 156
prognosis or, 157
Retinal artery macroaneurysm,
172174, 174f
Retinal break, 346347, 357, 372
causes o , 346
clinical signs o , 346347
diagnostic evaluation o , 347
di erential diagnosis o , 347
epidemiology o , 346
history o , 346
management o , 347, 354f, 355f, 356f
prognosis or, 347

types o
atrophic retinal break, 346
giant tear, 346
horseshoe ( ap) tears, 346
operculated tears, 346
retinal dialysis, 346
stretch/ necrotic tears, 347
Retinal capillary hemangioma,
247249, 249f
causes o , 247
clinical signs, 247
diagnostic evaluation o , 248
di erential diagnosis o , 247248
epidemiology o , 247
history o , 247
management o , 248
prognosis or, 248
von HippelLindau (VHL) disease,
247
Retinal capillary nonper usion, 156,
163, 165f, 170, 178, 284, 289,
294, 295, 339
Retinal cavernous hemangioma, 163,
250251, 251f
causes o , 250
central nervous system (CNS) and,
250
clinical signs o , 250
diagnostic evaluation o , 250
di erential diagnosis o , 250
epidemiology o , 250
history o , 250
management o , 250
prognosis or, 250
Retinal degenerations, 189239
Retinal detachment
exudative, 383385, 385f
di erential diagnosis o , 383384
in proli erative diabetic retinopathy,
113
rhegmatogenous, 357365,
359f365f
Retinal dialysis, 346, 351f
Retinal dragging, 289
Retinal dystrophies, 189239
Retinal edema, in retinal artery
macro-aneurysm, 172
Retinal emboli, 338
Retinal olds, 89
Retinal hemorrhage, 19, 169f, 170f
Retinal intra-arterial emboli, 142
in central retinal artery obstruction,
149, 152f
Retinal ischemia, 154
Retinal macroaneurysm, 321
Retinal necrosis, acute, 269
Retinal neovascularization, 178
Retinal pigment epithelium (RPE), 45,
58, 187, 189, 314, 357
abnormalities, 1

In d e x 399
in Bests disease, 189
bulls-eye pa ern o , 203
causes o , 255
changes, 319
clinical signs o , 255
congenital hypertrophy o , 252254,
253f254f
cystoid macular edema, 230
detachment o , 17, 19, 31f33f
diagnostic evaluation o , 255
di erential diagnosis o , 255
epidemiology o , 255
hamartoma o , combined with
hamartoma o retina, 255256,
256f
history o , 255
hyperplasia, 175
management o , 255
prognosis or, 255
reactive hyperplasia o , 255
retina, hamartoma o , 255, 256f
tears, 19, 36f37f
Retinal tear. See Retinal break
Retinal telangiectasis. See Coats
disease
Retinal tumors, 240272
Retinal vascular disease, 133188
Retinal vascular whitening, 187
Retinal vasculature, o in ants, 273
Retinal vasculitis, 270f
Retinal vein obstruction, 158
branch, 163165, 165f
central, 156157, 157f
Retinal vein occlusion, 96
Retinal whitening
in acute ophthalmic artery
obstruction, 153, 155f
in central retinal artery obstruction,
149
with traumatic injury, 314, 315f
Retinitis pigmentosa (RP), 210,
228232, 230f, 231f
atypical, 229
BardetBiedl syndrome, 234
BassenKornzweig syndrome,
233
causes o , 288
clinical signs o , 228229
Cockaynes syndrome, 233
diagnostic evaluation o , 229
epidemiology o , 228
with exudative vasculopathy, 229
Friedreichs ataxia, 235
history o , 228
KearnsSayre syndrome, 234
LaurenceMoon syndrome, 234
management o , 229230
mucopolysaccharidoses, 234
neuronal ceroid lipo uscinosis,
234235

pericentric, 229
prognosis or, 229230
Re sums disease, 233
Sanf lippos diseases, 234
sector, 229, 232f
systemic diseases associated with,
233235
Ushers syndrome, 233
Retinitis pigmentosa sine pigmento,
229
Retinitis punctata albescens, 219, 229
Retinoblastoma (Rb), 241, 243246,
245f, 246f, 384
causes o , 243
children with germinal, 244
clinical signs, 243244
diagnostic evaluation o , 244
di erential diagnosis o , 244
epidemiology o , 243
history o , 243
management o , 244245
prognosis or, 244
Retinochoroidal anastomoses, 19
Retinopathy, 182
central serous, 7879, 79f88f
chloroquine, 341342, 342f
diabetic, 9498
and co on-wool spots, 95
nonproli erative, 9598,
99f103f
hydroxychloroquine, 341342
hypertensive, 136137, 138f141f
proli erative diabetic, 112113,
99f111f
Purtschers, 327328, 328f
radiation, 182183, 184f186f
sickle cell, 178179, 179f181f
talc, 338340, 340f
thioridazine, 343345, 344f345f
Valsalva, 321322, 322f
Retinopathy o prematurity (ROP),
273, 277f
antiangiogenic injection therapy, 276
causes o , 273
clinical signs o , 274275
complication o , 281f
diagnostic evaluation o , 273274
di erential diagnosis o , 275
epidemiology o , 273
history, 273
laser photocoagulation or, 283f
management o , 275276
plus disease, 280f
prognosis or, 275276
retinal dragging, 281f
stages o severity, 277f279f
threshold disease, 274, 280f
Retinopexy, pneumatic, or
rhegmatogenous retinal
detachment, 358

Retinoschisis, 267
degenerative, 380382, 381f382f
juvenile X-linked, 307311, 309f311f
peripheral, 307, 310f
Rhegmatogenous retinal detachment,
78, 357359, 359f, 360f
causes o , 357
chronic, 361f, 362f
clinical signs o , 357
diagnostic evaluation o , 357
di erential diagnosis o , 357
epidemiology o , 357
history, 357
pigmentary disturbances, 363f
prognosis or, 358359
regressed, 363f
retinal incarceration, 365f
scleral buckle, 365f
subretinal hemorrhage, 364f
Ritalin, 338
Rod dys unction, 236
ROP. See Retinopathy o prematurity
RP. See Retinitis pigmentosa
RPE. See Retinal pigment epithelium
Rubeosis iridis, 166, 357, 366
Rush disease, o retinopathy o
prematurity, 274

S
Salmon patch hemorrhage, in sickle cell
retinopathy, 178
Sanf lippos diseases, 234
Scarring
disci orm, exudative age-related
macular degeneration and, 17,
19, 21f
macular, angioid streaks and, 72, 75f
Scleral buckle, or rhegmatogenous
retinal detachment, 358359,
365f
Scleral buckling surgery, 89, 92
Scleritis, posterior, 78, 89, 92, 265
Sea ans, in sickle cell retinopathy, 178,
180f
Sector laser panretinal
photocoagulation, or branch
retinal vein obstruction, 164
SeniorLoken syndrome, 294
Serous pigment epithelial detachment,
18, 34f35f
Shaken baby syndrome, 323324
clinical signs o , 323
diagnostic evaluation o , 323
di erential diagnosis o , 323
epidemiology o , 323
history o , 323
intraretinal and preretinal
hemorrhages, 324f
management o , 323
prognosis or, 323

4 0 0 In d e x
Sickle cell anemia, and angioid streaks, 72
Sickle cell disease, 134, 143, 145, 150,
154
Sickle cell retinopathy, 178179
black sunburst lesion, 179f
clinical signs o
nonproli erative mani estations,
178
proli erative changes, 178
diagnostic evaluation o , 178
di erential diagnosis o , 178
epidemiology o , 178
management o , 178179
pathophysiology o , 178
peripheral retinal neovascularization,
180f181f
prognosis or, 178179
Sickled red blood cells, 178
Skin hypopigmentation, 223
Small drusen, 1, 7f
Smokestack appearance, in central
serous retinopathy, 79, 86f
So drusen. See Large drusen
Solar maculopathy, 319320
clinical signs o , 319
diagnostic evaluation o , 319
di erential diagnosis o , 319
epidemiology o , 319
management o , 319
prognosis or, 319
sungazing and, 319
yellow oveal lesion, 319f320f
Solar retinopathy, 50, 329
SpielmeyerVogt disease, 235
Stargardts disease, 203209, 208f, 209f
with beaten bronze macula, 206f
bulls-eye macula, 207f
bulls-eye pa ern, 204
causes o , 203
clinical signs o , 203
diagnostic evaluation o , 203204
di erential diagnosis o , 203
epidemiology o , 203
history o , 203
management o , 204
pisci orm ecks, 205f
prognosis or, 204
RPE, loss o , 208f
Sticklers syndrome, 372
Strabismus, and retinoblastoma, 243,
245f
Stretch tears o retina, 347, 352f
SturgeWeber syndrome, 267
Submacular hemorrhage, and angioid
streaks, 72, 72f, 76f
Sur ace wrinkling retinopathy. See
Macular epiretinal membrane
Surgery
cystoid macular edema (CME), 61
hypotony maculopathy, 92

idiopathic macular hole, 50


scleral buckling, 89, 92
vitreomacular traction syndrome
(VMTS), 58
wet (exudative) AMD, 20
Sydenhams chorea, 143, 145, 150
Sympathetic ophthalmia, 383
Systemic lupus erythematosus, 149

T
Talc retinopathy, 338339
causes o , 338
clinical signs o , 338
diagnostic evaluation o , 338
di erential diagnosis o , 338
epidemiology o , 338
history o , 338
management o , 339
prognosis or, 339
yellow re ractile particles, 340f
Tamoxi en (Nolvadex), and talc
retinopathy, 338
Telangiectasia
localized, 295
para oveal, 175177, 176f177f
retinal. See Coats disease
Telangiectatic retinal vascular changes,
177f
Teletherapy, and radiation retinopathy,
182, 184f185f
Temporary balloon, or
rhegmatogenous retinal
detachment, 358
Tersons syndrome, 325326, 326f
causes o , 325
clinical signs o , 325
diagnostic evaluation o , 325
di erential diagnosis o , 325
epidemiology o , 325
history o , 325
management o , 325
prognosis or, 325
retinal and preretinal hemorrhages,
326
ermal laser photocoagulation, or
exudative age-related macular
degeneration, 20, 39f
ioridazine retinopathy, 343
causes o , 343
clinical signs o , 343
diagnostic evaluation o , 343
di erential diagnosis o , 343
epidemiology o , 343
history o , 343
management o , 343
nummular retinal pigment epithelial
loss, 344f345f
prognosis or, 343
reshold disease, o retinopathy o
prematurity, 274, 280f

yroid carcinoma, 264


Tilted disc syndrome, 68
Total serosanguineous retinal
detachment, 64
Toxic retinopathies, 314345
Toxocariasis, ocular, 275, 295, 304
Toxoplasmosis, ocular, 300
Transpupillary thermotherapy ( T),
260
Trauma, angioid streaks and, 73, 76f77f
Traumatic choroidal rupture, 72
Traumatic macular hole, 329330, 330f
causes o , 329
clinical signs o , 329
diagnostic evaluation o , 329
di erential diagnosis o , 329
epidemiology o , 329
history o , 329
management o , 329
prognosis or, 329
Traumatic retinopathies, 314345
True albinism, 223
TS. See Tuberous sclerosis
T. See Transpupillary thermotherapy
Tuberous sclerosis (TS), and astrocytic
hamartomas, 240241
Tumors
choroidal, 240272
retinal, 240272
Tumor-suppressor gene, 241
Turners syndrome, 294
Type A personality and CSR, 78
Tyrosinase-negative albinos, 224

U
Ultrasonography, 260
Ushers syndrome, 233

V
Valsalva retinopathy, 321, 322f
clinical signs o , 321
diagnostic evaluation o , 321
di erential diagnosis o , 321
epidemiology o , 321
history o , 321
management o , 321
prognosis or, 321
retinal hemorrhages, 322f
Vascular endothelial growth actor
(VEGF), 247
Vasculitis, retinal, 270f
Vasculopathy, polypoidal choroidal,
6466, 65f66f
Vasoproli erative retinal tumor, 248
VEGF. See Vascular endothelial growth
actor
VEGF injections, 20
Vein obstruction, central
and retinal artery, combination,
156157, 157f

In d e x 401
Venous beading, in nonproli erative
diabetic retinopathy, 9596,
96t, 104f
Verteporf n photodynamic therapy
(PDT)
or degenerative myopia, 68
or exudative age-related macular
degeneration, 20, 40f43f
VHL disease. See von Hippel-Lindau
disease
Vitamin A
or BassenKornzweig syndrome,
233
or retinitis pigmentosa, 230
Vitamin B6, or gyrate atrophy, 216
Vitamin E, or BassenKornzweig
syndrome, 233
Vitelli orm stage, o Bests disease, 189,
191f
Vitelliruptive stage, o Bests disease,
190, 193f
Vitrectomy, 50
or proli erative diabetic retinopathy,
113, 128f129f
or rhegmatogenous retinal
detachment, 358359
Vitreomacular traction syndrome
(VMTS), 5859, 59f
causes o , 58
clinical signs o , 58
diagnostic evaluation o , 58
di erential diagnosis o , 58
epidemiology o , 58
uorescein angiography o , 58
history o , 58
macular distortion in, 58
management o , 58

prognosis or, 58
retinal striae in, 58
spectral-domain OCT, 58
vitrectomy or, 58
Vitreoretinal tu s, 374375, 375f
causes o , 374
clinical signs o , 374
di erential diagnosis o , 374
epidemiology o , 374
history o , 374
management o , 374
meridional old, 375f
prognosis or, 374
Vitreoretinopathy
amilial exudative, 289293,
290f293f
proli erative, 366371, 366t,
368f371f
Vitreous base, avulsed, 318, 318f
Vitreous hemorrhage, in proli erative
diabetic retinopathy, 112,
121f122f
chronic, 179
VMTS. See Vitreomacular traction
syndrome
von HippelLindau (VHL) disease,
247, 249f

in A rican Americans, 19
Amsler grid monitoring, 17
anti-VEGF injection therapy, 20
in Asian Americans, 19
causes o , 17
clinical signs o , 1719
CNV and, 17, 18
comparative AMD treatment trial
(CA Study), 20
di erential diagnosis o , 1920
disci orm scarring, 17
early changes, 17
in elderly, 17
epidemiology o , 17
evidence-based therapy, 20
uorescein angiographic
classif cation, 17
uorescein leakage, 18
history o , 17
incidence o , 17
late, 17
loss o vision in, 17
management o , 20
OCT imaging, 17
PDT or, 20
pigment epithelial detachment,
17
prognosis or, 20
retinal pigment epithelial tears
in, 19
submacular hemorrhage in, 19
surgery or, 20
in United States, 17
in Western world, 17

W
WatzkeAllen sign, 50, 329
Waxy pallor, o optic disc, 228
Wegeners granulomatosis, 134, 143,
145, 149, 154, 156
WeillMarchesani syndrome, and
dislocated lens, 336
Wet (exudative) AMD
adjunctive treatment or, 20

Y
Yellow intraretinal crystals, 175

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