The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.

doi:10.1167/iovs.17-23453

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Article

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.

Investigative ophthalmology & visual science - 1 Aug 2018

Talib Mays, van Schooneveld Mary J, Van Cauwenbergh Caroline, Wijnholds Jan, Ten Brink Jacoline B, Florijn Ralph J, Schalij-Delfos Nicoline E, Dagnelie Gislin, van Genderen Maria M, De Baere Elfride, Meester-Smoor Magda A, De Zaeytijd Julie, Cremers Frans P M, van den Born L Ingeborgh, Thiadens Alberta A, Hoyng Carel B, Klaver Caroline C, Leroy Bart P, Bergen Arthur A, Boon Camiel J F

Abstract excerpt

Purpose: The purpose of this study was to investigate the phenotype and long-term clinical course of female carriers of RPGR mutations. Methods: This was a retrospective cohort study of 125 heterozygous RPGR mutation carriers from 49 families. Results: Eighty-three heterozygotes were from retinitis pigmentosa (RP) pedigrees, 37 were from cone-/cone-rod dystrophy (COD/CORD) pedigrees, and 5 heterozygotes were from...

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PMID: 30105367
DOI: 10.1167/iovs.17-23453

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RPGR

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