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Article

RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Jul 2010

Jayasundera Thiran, Branham Kari E H, Othman Mohammad, Rhoades William R, Karoukis Athanasios J, Khanna Hemant, Swaroop Anand, Heckenlively John R

Abstract excerpt

OBJECTIVES: To assess the phenotype of patients with X-linked retinitis pigmentosa (XLRP) with RP2 mutations and to correlate the findings with their genotype. METHODS: Six hundred eleven patients with RP were screened for RP2 mutations. From this screen, 18 patients with RP2 mutations were evaluated clinically with standardized electroretinography, Goldmann visual fields, and ocular examinations. In addition, 7...

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Identifiers

PMID: 20625056
DOI: 10.1001/archophthalmol.2010.122
PMCID: PMC3392190

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Source receipt: pubmed, retrieved 7 Sept 2026.

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