• 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.
Weinstein JM, Gleaton M, Weidner WA, Young RSK. Leber's Congenital AmaurosisRelationship of Structural CNS Anomalies to Psychomotor Retardation. Arch Neurol. 1984;41(2):204–206. doi:10.1001/archneur.1984.04050140102036
Customize your JAMA Network experience by selecting one or more topics from the list below.