General Medical Information

Congenital Abnormalities

Jean Edwards Holt

The ocular structures often are affected in developmental abnormalities and congenital anomaly syndromes. These range from minor cosmetic deformities to complete lack of any visual components. Congenital glaucoma is characterized by a large eye and marked photophobia. Childhood cataracts often are of known cause, such as manifestation of congenital rubella or a consequence of an inborn error of metabolism. Any abnormality in the red reflex elicited through the ophthalmoscope during examination of a newborn should be cause for referral. The cat’s eye reflex, or white pupil, suggests many serious diseases, the most severe of which is malignant intraocular tumor of children—retinoblastoma.