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Article

Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene.

European journal of human genetics : EJHG - 1 Jan 2000

Marlhens F, Griffoin J M, Bareil C, Arnaud B, Claustres M, Hamel C P

Abstract excerpt

Retinal dystrophies are a complex set of hereditary diseases of the retina that result in the degeneration of photoreceptors. Recent studies have shown that mutations in RPE65, a gene that codes for a retinal pigment epithelium (RPE)-specific protein thought to be involved in the 11-cis-retinoid metabolism, a key process in vision, cause severe, early onset retinal dystrophy. We describe two novel missense RPE65...

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Identifiers

PMID: 9801879
DOI: 10.1038/sj.ejhg.5200205

Genes

RPE65
RPE

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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