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Article

RPGR-associated retinal degeneration in human X-linked RP and a murine model.

Investigative ophthalmology & visual science - 15 Aug 2012

Huang Wei Chieh, Wright Alan F, Roman Alejandro J, Cideciyan Artur V, Manson Forbes D, Gewaily Dina Y, Schwartz Sharon B, Sadigh Sam, Limberis Maria P, Bell Peter, Wilson James M, Swaroop Anand, Jacobson Samuel G

Abstract excerpt

PURPOSE: We investigated the retinal disease due to mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in human patients and in an Rpgr conditional knockout (cko) mouse model. METHODS: XLRP patients with RPGR-ORF15 mutations (n = 35, ages at first visit 5-72 years) had clinical examinations, and rod and cone perimetry. Rpgr-cko mice, in which the proximal promoter and first exon were deleted...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22807293
DOI: 10.1167/iovs.12-10070
PMCID: PMC3422104

Genes

RPGR
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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