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Article

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

American journal of human genetics - 1 Oct 2004

Perrault Isabelle, Hanein Sylvain, Gerber Sylvie, Barbet Fabienne, Ducroq Dominique, Dollfus Helene, Hamel Christian, Dufier Jean-Louis, Munnich Arnold, Kaplan Josseline, Rozet Jean-Michel

Abstract excerpt

Leber congenital amaurosis (LCA), the most early-onset and severe form of all inherited retinal dystrophies, is responsible for congenital blindness. Ten LCA genes have been mapped, and seven of these have been identified. Because some of these genes are involved in the visual cycle, we regarded the retinal pigment epithelium and photoreceptor-specific retinal dehydrogenase (RDH) genes as candidate genes in LCA....

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Alcohol Oxidoreductases
Blindness
Chromatography, Liquid
DNA Mutational Analysis
DNA Primers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Optic Atrophy, Hereditary, Leber

Sequence Alignment

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Open in PubMed Open full text

Identifiers

PMID: 15322982
DOI: 10.1086/424889
PMCID: PMC1182050

Genes

RDH12

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.PMID 15322982Read ↗

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