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Article

Mutations in the RPGR gene cause X-linked cone dystrophy.

Human molecular genetics - 1 Mar 2002

Yang Zhenglin, Peachey Neal S, Moshfeghi Darius M, Thirumalaichary Sukanya, Chorich Lou, Shugart Yin Y, Fan Keke, Zhang Kang

Abstract excerpt

X-linked cone dystrophy is a type of hereditary retinal degeneration characterized by a progressive dysfunction of the day vision or photopic (cone) system with preservation of night vision or scotopic (rod) function. The disease presents with a triad of photophobia, loss of color vision and reduced central vision. This phenotype is distinct from retinitis pigmentosa (RP) in which there are prominent night and...

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Source

Identifiers

PMID: 11875055
DOI: 10.1093/hmg/11.5.605

Genes

RPGR

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.

Related research

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Research trail→

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Mutations in the RPGR gene cause X-linked cone dystrophy.PMID 11875055Read ↗

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.Semantic proximity Read ↗

Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15.Semantic proximity Read ↗

X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone OpsinsSemantic proximity Read ↗

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.Semantic proximity Read ↗

Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes.Semantic proximity Read ↗

RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.Semantic proximity Read ↗

Clinical course of cone dystrophy caused by mutations in the RPGR gene.Semantic proximity Read ↗

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.Semantic proximity Read ↗

RPGR mutation analysis and disease: an update.Semantic proximity Read ↗

Mutations of RPGR in X-linked retinitis pigmentosa (RP3).Semantic proximity Read ↗

Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa.Semantic proximity Read ↗

CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study.Semantic proximity Read ↗

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