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[Ocular manifestations of patients with gangliosidosis].

Authors
Type
Published Article
Journal
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae
Publication Date
Volume
16
Issue
4
Pages
285–289
Identifiers
PMID: 7867097
Source
Medline

Abstract

This paper describes the ophthalmological findings in 4 patients with gangliosidosis (GLS). The diagnosis was verified by assaying hexosaminidase A and beta-galactosidase activities with marked deficiency. The presence of a cherry-red spot at the macular region, macular degeneration and atrophy of the optic disc were the main ocular manifestations. The ocular pathological changes seen under light and electron microscopy and the inherited error of metabolism of ganglioside are discussed.

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