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Article

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

Investigative ophthalmology & visual science - 1 Jun 2005

Ebenezer Neil D, Michaelides Michel, Jenkins Sharon A, Audo Isabelle, Webster Andrew R, Cheetham Michael E, Stockman Andrew, Maher Eamonn R, Ainsworth John R, Yates John R, Bradshaw Keith, Holder Graham E, Moore Anthony T, Hardcastle Alison J

Abstract excerpt

PURPOSE: To test the incidence of mutations in RPGR ORF15 in six families with X-linked progressive retinal degeneration (cone-rod dystrophy [XLCORD], macular or cone dystrophy) and to undertake a detailed phenotypic assessment of families in whom ORF15 mutations were identified. METHODS: To ampl...

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Source

Identifiers

PMID: 15914600
DOI: 10.1167/iovs.04-1482

Genes

RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15914600-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.PMID 15914600Read ↗

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

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

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

Mutations in the RPGR gene cause X-linked cone dystrophy.Semantic proximity Read ↗

Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15.Semantic 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 ↗

Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-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 ↗

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Defining a Novel RPGR Phenotype of Sector Retinitis Pigmentosa With Cone Dystrophy.Semantic proximity Read ↗

Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15.Semantic proximity Read ↗

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.Semantic proximity Read ↗

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