CONGENITAL ENCEPHALO-OPHTHALMIC DYSPLASIA

Abstract

PRENATAL and neonatal retinopathy with congenital cerebral dysplasia is a rare syndrome. It is believed that the term "congenital encephalo-ophthalmic dysplasia" would be a suitable name for this disease, since chiefly the brain and the retina with their associated structures (but not the spinal cord) are affected by the disease, which has its origin in prenatal life. Parts of the syndrome occurring in a few cases have been described previously, but the disease has not been studied as a general pathologic process and a clinical entity. Various aspects have been presented—the ocular disease by the ophthalmologists, the cerebral dysplasia and hydrocephalus by the neurologists and the blindness and mental retardation by psychologists and psychiatrists. The disease is characterized by retinal and cerebral hypoplasia and hyperplasia. The ocular disease is made manifest by the secondary changes ; these include microphthalmos ; malformations of the retina, choroid and optic nerve ; retinal dysplasia ; retinal glial