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Article

CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study.

Retina (Philadelphia, Pa.) - 1 Jun 2019

Talib Mays, van Schooneveld Mary J, Thiadens Alberta A, Fiocco Marta, Wijnholds Jan, Florijn Ralph J, Schalij-Delfos Nicoline E, van Genderen Maria M, Putter Hein, Cremers Frans P M, Dagnelie Gislin, Ten Brink Jacoline B, Klaver Caroline C W, van den Born L Ingeborgh, Hoyng Carel B, Bergen Arthur A, Boon Camiel J F

Abstract excerpt

PURPOSE: To describe the phenotype and clinical course of patients with RPGR-associated retinal dystrophies, and to identify genotype-phenotype correlations. METHODS: A multicenter medical records review of 74 male patients with RPGR-associated retinal dystrophies. RESULTS: Patients had retinitis pigmentosa (RP; n = 52; 70%), cone dystrophy (COD; n = 5; 7%), or cone-rod dystrophy (CORD; n = 17; 23%). The median...

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Identifiers

PMID: 29528978
DOI: 10.1097/IAE.0000000000002125

Genes

RPGR

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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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