biostudies-literatureGouveia NEuropean Commission100915https://www.ebi.ac.uk/biostudies/studies/S-EPMC12494807biostudies-literatureUnknown6(1)<h4>Purpose</h4>To characterize the genetic, structural, and patient-reported visual function features in a multicenter cohort of patients with retinitis pigmentosa GTPase regulator (<i>RPGR</i>)-associated retinal degeneration.<h4>Design</h4>A cross-sectional, exploratory, international, multicenter study conducted across 3 academic centers.<h4>Subjects</h4>The study included 102 eyes from 51 patients (37.3% female) with genetically confirmed <i>RPGR</i>-associated retinal degeneration. Only male and female patients with a retinitis pigmentosa (RP) phenotype were included, as well as female carriers from RP pedigrees with retinal degeneration.<h4>Methods</h4>Genetic variants were identified and visual acuity (VA) was recorded. Retinal phenotype was classified using fundus autofluorescenceOphthalmology scienceRetinitis Pigmentosa GTPase regulator-Associated Retinal Degeneration: Integrating Patient-Reported Outcomes, Genetic, and Structural Biomarkers.PMC12494807739543Gouveia NKaruntu JMarques JPSilva RAlmushattat HBoon CfalseRetinitis Pigmentosa GTPase regulator-Associated Retinal Degeneration: Integrating Patient-Reported Outcomes, Genetic, and Structural Biomarkers.<h4>Purpose</h4>To characterize the genetic, structural, and patient-reported visual function features in a multicenter cohort of patients with retinitis pigmentosa GTPase regulator (<i>RPGR</i>)-associated retinal degeneration.<h4>Design</h4>A cross-sectional, exploratory, international, multicenter study conducted across 3 academic centers.<h4>Subjects</h4>The study included 102 eyes from 51 patients (37.3% female) with genetically confirmed <i>RPGR</i>-associated retinal degeneration. Only male and female patients with a retinitis pigmentosa (RP) phenotype were included, as well as female carriers from RP pedigrees with retinal degeneration.<h4>Methods</h4>Genetic variants were identified and visual acuity (VA) was recorded. Retinal phenotype was classified using fundus autofluorescence2026-01-01T00:00:00Z2026 Jan2026-06-15T06:09:34.903Z2026-06-15T03:08:41.867ZS-EPMC124948074104911010.1016/j.xops.2025.100915