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Article

Leber congenital amaurosis.

Molecular genetics and metabolism - 1 Oct 1999

Perrault I, Rozet J M, Gerber S, Ghazi I, Leowski C, Ducroq D, Souied E, 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 localized the first disease causing gene, LCA1, to chromosome 17p13 and confirmed the genetic heterogeneity. In 1996, we ascribed...

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Source

Identifiers

PMID: 10527670
DOI: 10.1006/mgme.1999.2906

Genes

RPE65
CRX

Provenance

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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