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Leber's congenital amaurosis. Relationship of structural CNS anomalies to psychomotor retardation.

Authors
Type
Published Article
Journal
Archives of Neurology
0003-9942
Publisher
American Medical Association
Publication Date
Volume
41
Issue
2
Pages
204–206
Identifiers
PMID: 6691826
Source
Medline

Abstract

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.

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