2 SIB CASES OF LEBER CONGENITAL AMAUROSIS WITH CEREBELLAR VERMIS HYPOPLASIA AND MULTIPLE SYSTEMIC ANOMALIES

Leber's congenital amaurosis (LCA), a type of congenital blindness, is clinically and genetically heterogeneous and often associated with sy stemic anomalies. We report on two sisters who were born to a consangu ineous couple and had retinitis pigmentosa-like pigmented retinal lesi ons, alternating exotropia, bilateral cataracts, and anomalous coarse facies characterized by deformed skull with narrow forehead, low anter ior hairline, hypertelorism, short philtrum, thin upper lip, and promi nent jaw; cerebellar vermis hypoplasia; dilatation of the fourth ventr icle; severe mental retardation; tremor; brisk deep tendon reflexes an d abnormal behavior; and skeletal abnormalities such as limited extens ion of elbow and/or finger joints and talipes equinovalgus, Skin defec t and renal anomalies were seen in only one patient. Our patients are the first familial LCA associated with cerebellar vermis hypoplasia, a nd the disease involving particular multiple systemic anomalies may re present a distinct clinical entity. (C) 1998 Wiley-Liss, Inc.