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Article

RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.

The British journal of ophthalmology - 1 Sept 2009

Ruddle J B, Ebenezer N D, Kearns L S, Mulhall L E, Mackey D A, Hardcastle A J

Abstract excerpt

BACKGROUND: Mutations in the retinitis pigmentosa GTPase regulator gene (RPGR) are estimated to cause up to 20% of all Caucasian retinitis pigmentosa and up to 75% of cases of X-Linked RP (XLRP). Exon open reading frame 15 (ORF15) is a purine-rich mutation hotspot. Mutations in RPGR ORF15 have al...

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Source

Identifiers

PMID: 19429592
DOI: 10.1136/bjo.2008.153908

Genes

RPGR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19429592-2026-09-02.2. 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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RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.PMID 19429592Read ↗

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X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.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 ↗

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