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Article

Spectrum of retGC1 mutations in Leber's congenital amaurosis.

European journal of human genetics : EJHG - 1 Aug 2000

Perrault I, Rozet J M, Gerber S, Ghazi I, Ducroq D, Souied E, Leowski C, Bonnemaison M, Dufier J L, Munnich A, Kaplan J

Abstract excerpt

Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies responsible for congenital blindness. Genetic heterogeneity of LCA has been suspected since the report by Waardenburg of normal children born to affected parents. In 1995 we localised the first disease causing gene, LCA1, to chromosome 17p13 and confirmed the genetic heterogeneity. In 1996 we ascribed LCA1...

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Identifiers

PMID: 10951519
DOI: 10.1038/sj.ejhg.5200503

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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