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Article

[Genetics of retinitis pigmentosa: metabolic classification and phenotype/genotype correlations].

Journal francais d'ophtalmologie - 1 Jan 2005

Maubaret C, Hamel C

Abstract excerpt

Retinitis pigmentosa (RP, prevalence 1/4000) is a set of hereditary retinal dystrophies characterized by pigment deposits in fundus and progressive death of photoreceptors, always associated with the alteration of retinal pigment epithelium. Genetic heterogeneity of the typical nonsyndromic form (rod cone dystrophy) is extensive: 11 genes and one locus were reported for autosomal dominant RP, 17 genes and five...

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Source

Identifiers

PMID: 15767903
DOI: 10.1016/s0181-5512(05)81029-0

Genes

RPGR
RHO

Provenance

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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