Retinal Dystrophy in the Cardiofaciocutaneous Syndrome

Abstract

The cardiofaciocutaneous syndrome was first described by Reynolds and co-workers in 1986. x Patients have a characteristic facial appearance, mental retardation, abnormal skin and hair, and congenital heart disease. Typical facial characteristics consist of a high forehead with bitemporal narrowing, downslanting of the palpebral fissures, a depressed nasal bridge, and posteriorly rotated ears with prominent helices. Poor vision, ptosis, strabismus, nystagmus, and optic atrophy have been noted in some of the cases reported to date.2 No specific etiology for the poor vision, nystagmus, or strabismus in this syndrome has been established, although optic atrophy and central nervous system dysfunction may be contributory factors.