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Article

Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.

Nature genetics - 1 Oct 1997

Gu S M, Thompson D A, Srikumari C R, Lorenz B, Finckh U, Nicoletti A, Murthy K R, Rathmann M, Kumaramanickavel G, Denton M J, Gal A

Abstract excerpt

Autosomal recessive childhood-onset severe retinal dystrophy (arCSRD) designates a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (LCA), while the less aggressive forms are usually considered juvenile retinitis pigmentosa. Recently, mutations in the retinal-specific guanylate cyclase gene were found in patients...

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Source

Identifiers

PMID: 9326941
DOI: 10.1038/ng1097-194

Genes

RPE
RPE65

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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RPE65 and retinal dystrophy: Report of new and recurrent mutations.Semantic proximity Read ↗

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