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Article

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

Human mutation - 1 Dec 2007

Gerber Sylvie, Hanein Sylvain, Perrault Isabelle, Delphin Nathalie, Aboussair Nisrine, Leowski Corinne, Dufier Jean-Louis, Roche Olivier, Munnich Arnold, Kaplan Josseline, Rozet Jean-Michel

Abstract excerpt

Leber congenital amaurosis (LCA) is the earliest and most severe form of inherited retinal dystrophy responsible for blindness or severe visual impairment at birth or within the first months of life. Up to date, ten LCA genes have been identified. Three of them account for ca. 43% of families and are responsible for a congenital severe stationary cone-rod dystrophy (Type I, 60% of LCA) while the seven remaining...

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Identifiers

PMID: 18000884
DOI: 10.1002/humu.9513

Genes

LCA5

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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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Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.PMID 18000884Read ↗

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