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Article

RPGR-Related Retinopathy: Clinical Features, Molecular Genetics, and Gene Replacement Therapy.

Cold Spring Harbor perspectives in medicine - 1 Nov 2023

Awadh Hashem Shaima, Georgiou Michalis, Ali Robin R, Michaelides Michel

Abstract excerpt

Retinitis pigmentosa GTPase regulator (RPGR) gene variants are the predominant cause of X-linked retinitis pigmentosa (XLRP) and a common cause of cone-rod dystrophy (CORD). XLRP presents as early as the first decade of life, with impaired night vision and constriction of peripheral visual field and rapid progression, eventually leading to blindness. In this review, we present RPGR gene structure and function,...

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Identifiers

PMID: 37188525
DOI: 10.1101/cshperspect.a041280
PMCID: PMC10626266

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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