Leber's congenital amaurosis. Relationship of structural CNS anomalies to psychomotor retardation.
Three patients (two of them siblings) had Leber's congenital amaurosis and cerebellar disease. Despite blindness and severe motor deficits, all three patients have achieved relatively normal intellectual and psychosocial milestones. Computed tomographic scans, performed in two patients, demonstrated hypoplasia of the cerebellar vermis in both. The presence of delayed speech and motor development as well as structural CNS abnormalities in children with Leber's congenital amaurosis does not necessarily imply that severe intellectual impairment will be present.
D001766:Blindness / Q000150:complications / Q000000981:diagnostic imaging*; D002526:Cerebellar Diseases / Q000150:complications / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007360:Intelligence; D008297:Male; D011596:Psychomotor Disorders / Q000150:complications*; D011859:Radiography