169.

Congenital Malformations of The Eye

Review of MEDICAL EMBRYOLOGY Book by BEN PANSKY, Ph.D, M.D.
Buy This Book >
168. The Eye: Lens, Choroid, Sclera, Cornea, And Optic Nerve
PREV TABLE OF CONTENT NEXT
170. The Vestibulocochlear System: The External Ear And The Eardrum (tympanic Membrane)

1. Introduction: gross malformations of the eye are formed during the period of
organogenesis, approximately between days 20 and 60. However, the eye is vulnerable to
teratogenic agents even after this period, especially at the time of histogenesis
2. Disorders of basic organogenesis
1. CYCLOPIA: rare malformation; is the presence of a single median eye or 2 eyes,
more or less fused on the midline
1. This condition is never a single isolated malformation, but is usually a part
of a complex syndrome associating ethmocephaly and arrhinencephaly, in
varying degrees
2. ANOPHTHALMIA refers to the uni- or bilateral absence of the eyes
1. The eyelids and motor muscles usually are present, since the origin of
these structures is independent of that of the eye
2. This malformation generally is accompanied by other craniocerebral
anomalies
3. This malformation can be produced experimentally by pantothenic acid
deficiency, hypervitaminosis A, hypoglycemia-producing sulfamides, as
well as other agents
3. MICROPHTHALMIA: the eyeball and the lens are small and more or less
malformed
1. This malformation frequently is associated with coloboma
2. This condition can be produced experimentally by the use of the same
substances listed under B (3) above
3. The etiology of this malformation in humans is uncertain, but a genetic
origin is probable, and irradiation during the first few weeks of pregnancy
has been implicated
4. RETINOCELE is a herniation of the retina into the sclera, caused by failure of the
optic choroid tissue to close. If the hernia is severe, it can result in protrusion of
the eyeball
5. CONGENITAL CATARACT: in this condition, the structure of the lens is altered
and becomes opaque during intrauterine life
1. Cataract can be produced experimentally by the administration of
chemicals or drugs (thyroxine, for example) to the mother
2. In humans, rubella, certain other viral infections, and toxoplasmosis are
frequent causes of this malformation when they are contracted by the
mother during her first 2 months of pregnancy
 1. If the mother is infected after week 7 of pregnancy, the lens
escapes damage, but the child may be deaf as a result of imperfect
development of the cochlea
3. Some cases of congenital cataract are thought to be of genetic origin
6. COLOBOMA represents the persistence of the optic (choroid) fissure after week
7 of development. The coloboma may involve the retina and the iris
1. Its cause is unknown, and visual problems vary with the severity of the
malformation
3. Secondary disorders
1. BUPHTHALMOS OR CONGENITAL GLAUCOMA is due to a problem of
venous circulation (drainage of the aqueous humor), usually related to dysgenesis
of the venous system circumscribing the iris
1. It has been produced experimentally by giving glucagon to a pregnant rat
2. INCOMPLETE REGRESSION OF THE HYALOID ARTERY causes problems
of vision only if the remnants of the artery are considerable
3. PERSISTENCE OF THE PUPILLARY MEMBRANE causes only minor
problems
4. ANOMALIES OF EYE DIMENSIONS may be the cause of myopia (the optic
axis is too long) or hyperopia (the optic axis is too short)
1. An irregularity of curvature of the lens or cornea results in astigmatism
5. RETROLENTAL FIBROPLASIA is fibrosis of the vitreous body with folding of
the retina