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RP has significant phenotypic variation
patients with the same genetic mutation can
present with very different retinal findings
Photoreceptors is shortening of the rod outer
segments loss of the rod photoreceptor
occur in mid periphery of the retina These
regions of the retina reflect the cell apoptosis by
having decreased nuclei in the outer nuclear layer
the degeneration tends to be worse in the
inferior retina suggesting a role for light
exposure
The final common pathway in RP is typically
death of the rod photoreceptors that leads to
vision loss most densely found in the
midperipheral retina, cell loss in this area tends
to lead to peripheral vision loss and night vision
loss
Etiology
Photoreceptor cell death (most of the
photoreceptor cells are rods)
Molecular defect more than one hundred
different genes
Autosomal recessive
Autosomal dominant X-linked recessive
Incidence
Occurs 5 persons per 1000 of the world
population
Appears in the childhood progresses slowly
blindness in advance middle age
Male are more commonly affected than
females in ratio of 3:2
Clinical Features
1. Visual Symptoms
Night blindness It is the characteristic feature
and may present several years before the visible
changes in the retina appear due to
degeneration of the rods
Dark adaptation Light threshold of the
peripheral retina is increased the process of
dark adaptation itself is not affected until very
late
Tubular vision occurs in advanced cases
2. Fundus Changes (fig.1)
Retinal pigmentary changes
these are typically perivascular
and resemble bone corpuscles in
shape
Retinal arterioles are narrowed
and may become thread-like in
late stages
Optic disc becomes pale and waxy
in later stages and ultimately
consecutive optic atrophy occurs
(Fig.2).
Other associated changes which
may be seen are colloid bodies,
choroidal sclerosis, cystoid
macular oedema, atrophic or
cellophane maculopathy.
3. Visual Field Changes
Annular or ring-shaped
scotoma is a typical feature
which corresponds to the
degenerated equatorial
zone of retina
As the disease progresses,
scotoma increases
anteriorly and posteriorly
and ultimately only central
vision is left (tubular vision)
Eventually even this is also
lost and the patient
becomes blind.
Treatment
No effective treatment for the disease
Measures to stop progression, which have been tried from time to
time, without any breakthrough include: vasodilators, placental
extracts, transplantation of rectus muscles into suprachoroidal
space, light exclusion therapy, ultrasonic therapy and acupuncture
therapy. Recently vitamin A and E have been recommended to
check its progression.
Low vision aids (LVA) in the form of magnifying glasses and night
vision device may be of some help.
Rehabilitation of the patient should be carried out as per his socio-
economic background
Prophylaxis Genetic counselling for no consanguinous marriages
may help to reduce the incidence of disease. Further, affected
individuals should be advised not to produce children
Age-Related Macular Degeneration
senile macular degeneration
is a bilateral disease of persons of 59 years of
age or older
It is a leading cause of blindness in
population above the age of 65 years
It is of two types non-exudative and
exudative
Risk Factors
Heredity
Nutrition
Smoking
Hypertension
Exposure to sun light
Clinical types
1. Non-exudative or atrophic ARMD
dry or geographic ARMD 90 percent cases
causes mild to moderate, gradual loss of
vision
Patients may complain of distorted vision,
difficulty in reading due to central shadowing
Ophthalmoscopically (Fig. 11.26A)
it is characterised by
occurrence of drusens (colloid
bodies)
pale areas of retinal pigment
epithelium atrophy
irregular or clustered
pigmentation
Drusens appear as small discrete,
yellowish-white, slightly elevated
spots
later stages enlargement of
the atrophic areas within which
the larger choroidal vessels may
become visible
2. Exudative ARMD
Wet or neovascular ARMD
10% rapidly progressive
marked loss of vision
Stages:
Stage of drusen formation,
Stage of retinal pigment
epithelium (RPE) detachment
Stage of CNV (Fig. 11.26B)
Stage of haemorrhagic
detachment of RPE
Stage of haemorrhagic
detachment of neurosensory
retina
Stage of disciform (scarring)
macular degeneration
Diagnosis
Examination of the macula slitlamp
biomicroscopy with a +90D/+78D non-contact
lens
Fundus fluorescein angiography indocyanine
green angiography help in detecting CNV in
relation to foveal avascular zone
Treatment
There is no effective treatment for non-
exudative ARMD
some treatment options are available for
exudative ARMD
Certain specific:
antioxidants, vitamins and minerals (vitamin C
and E, beta carotene, zinc and copper) prevent
or delay the progression of ARMD
Treatment for exudative ARMD
Argon green-laser photocoagulation is the treatment of choice for
extrafoveal of CNVM
Photodynamic therapy (PDT) is the treatment of choice for subfoveal and
juxtafoveal classic CNVM. In PDT, vertiporfin, a photosensitizer or light
activated dye is injected intravenously. The area of CNVM is then exposed
to light from a diode laser source at a wavelength (689 nm) that
corresponds to absorption peak of the dye. The light-activated dye then
causes disruption of cellular structures and occlusion of CNVM with
minimum damage to adjacent RPE, photoreceptors and capillaries.
Transpupillary thermotherapy (TTT) with a diode laser (810 nm) may be
considered for subfoveal occult CNVM PDT is definitely better than TTT
but is very costly.
Surgical treatment in the form of submacular surgery to remove CNVM
and macular translocation surgery are being evaluated
Pharmacologic modulation with antiangiogenic agent like interferon alfa-
29, and inhibitor of vascular endothelial growth factor (VEGF)
Eye Intoxification
Introduction
The toxic retinopathies form a diverse group
of conditions that result from retinal damage
caused by systemically administered drugs
relatively rare particularly when features of
bilateral pigmentary disturbance or retinal
crystal deposition are present
CHLOROQUINE AND
HYDROXYCHLOROQUINE
Chloroquine was popularized first for the
prophylaxis and treatment of malaria
as an effective treatment for various connective
tissue diseases (rheumatoid arthritis (RA) and
systemic lupus erythematosus (SLE) )
Chloroquine and hydroxychloroquine can
produce identical retinopathy
related to their affinity for pigmented structures,
especially in the eye
difficulty with reading or with other fine visual tasks
caused by central or paracentral scotomas
The earliest fundus are irregularity in the
macular pigmentation and blunting of the
foveal reflex
the central irregular pigmentation may
become surrounded by a concentric zone of
hypopigmentation, usually horizontally oval
and more prominent inferior to the fovea
(Figure 1)
This paracentral depigmentation results in
the classical bulls-eye maculopathy
continued exposure to the drug
generalized pigmentary changes
End-stage appearance may be
indistinguishable from that of a cone-rod
dystrophy, with peripheral pigment
irregularity and bone spicule formation,
vascular attenuation, and optic disc pallor
Thioridazine
antipsychotic drug
After 2 weeks blurring, nyctalopia,
and a brownish visual discoloration
vision was normal to profoundly
reduced
fundus could appear normal
change a couple of weeks
Pigment granularity developed
posterior to the equator
geographic areas of depigmentation
and loss of choriocapillaris developed
( Fig.2)
If the drug was withdrawn early after
the onset of symptoms, the patients
usually reported improvement in
vision
Niacin
nicotinic acid, vitamin B
6
to lower serum
cholesterol
patients who take 1.5 g or more daily
develop maculopathy Rarely
central visual changes in weeks or
months after the initial administration of the
drug
Reduction in visual acuity is usually mild to
moderate
The patients develop a bilateral maculopathy
that has the clinical appearance of cystoid
macular edema, but there is no dye leakage
or accumulation with fluorescein
angiography
Optical coherence tomography (OCT) reveals
the presence of cystoid spaces in the inner
nuclear and outer plexiform layers ( Fig.3)
Tamoxifen
Tamoxifen is a nonsteroidal estrogen
antagonist breast cancer
Retinopathy was first described
among women treated with more
than 180 mg/day for longer than a
year
These patients usually had a
symptomatic decrease in vision
The characteristic fundus findings
were small, white, refractile deposits
in the inner retina
Associated pigmentary irregularity (
Fig.4)
Fluorescein angiography
demonstrated macular edema in
most cases
Deferoxamine
Deferoxamine mesylate is a chelating agent
used to remove toxic levels of heavy metals
from the body
reduce iron levels in patients with
transfusion-dependent anemia and to treat
aluminum toxicity Chronic Renal
The onset of visual symptoms occur after
long exposure
Patients usually complain of blurred vision,
nyctalopia, color vision abnormalities, or
visual field restriction
the fundus may appear normal or subtle
pigment
Color vision is frequently abnormal, typically
with a tritan dyschromatopsia
The maculopathy may progress develop
into coarse macular pigmentary changes (
Fig.5) occasionally, peripheral pigmentary
clumping
Didanosine
Didanosine is an antiretroviral drug
human immunodeficiency virus infection
Of 43 children receiving didanosine followed
prospectively, 3 (7%) developed an
asymptomatic peripheral retinal
degeneration first noted after 919 months
of therapy
The findings consisted of small, sharply
demarcated areas of retinal and retinal
pigment epithelial atrophy around the
midperiphery ( Fig. 6)
Visual acuity remained normal in all patients
One patient who was able to undergo
reliable testing demonstrated mild restriction
of the peripheral visual field
Clinical findings included normal visual
acuity, field defects, and abnormal electro-
oculogram (EOG)
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