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Article

A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa.

Molecular vision - 1 Jan 2013

Tiab Leila, Largueche Leila, Chouchane Ibtissem, Derouiche Kaouthar, Munier Francis L, El Matri Leila, Schorderet Daniel F

Abstract excerpt

PURPOSE: Retinitis pigmentosa (RP; MIM 268000) is a hereditary disease characterized by poor night vision and progressive loss of photoreceptors, eventually leading to blindness. This degenerative process primarily affects peripheral vision due to the loss of rods. Autosomal recessive RP (arRP) is clinically and genetically heterogeneous. It has been associated with mutations in different genes, including CRB1...

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Source

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Identifiers

PMID: 23592920
PMCID: PMC3626296

Genes

CRB1

Variants

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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