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Article

Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.

JAMA ophthalmology - 1 Aug 2013

Zahid Sarwar, Khan Naheed, Branham Kari, Othman Mohammad, Karoukis Athanasios J, Sharma Nisha, Moncrief Ashley, Mahmood Mahdi N, Sieving Paul A, Swaroop Anand, Heckenlively John R, Jayasundera Thiran

Abstract excerpt

IMPORTANCE: For patients with X-linked retinitis pigmentosa and clinicians alike, phenotypic variability can be challenging because it complicates counseling regarding patients' likely visual prognosis. OBJECTIVE: To evaluate the clinical findings from patients with X-linked retinitis pigmentosa with 13 distinct RPGR mutations and assess for phenotypic concordance or variability. DESIGN: Retrospective medical...

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Source

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Identifiers

PMID: 23681342
DOI: 10.1001/jamaophthalmol.2013.120
PMCID: PMC4627494

Genes

ERG
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.

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