{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Gouveia N"],"funding":["European Commission"],"pagination":["100915"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12494807"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["6(1)"],"pubmed_abstract":["<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 autofluorescence"],"journal":["Ophthalmology science"],"pubmed_title":["Retinitis Pigmentosa GTPase regulator-Associated Retinal Degeneration: Integrating Patient-Reported Outcomes, Genetic, and Structural Biomarkers."],"pmcid":["PMC12494807"],"funding_grant_id":["739543"],"pubmed_authors":["Gouveia N","Karuntu J","Marques JP","Silva R","Almushattat H","Boon C"],"additional_accession":[]},"is_claimable":false,"name":"Retinitis Pigmentosa GTPase regulator-Associated Retinal Degeneration: Integrating Patient-Reported Outcomes, Genetic, and Structural Biomarkers.","description":"<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 autofluorescence","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026 Jan","modification":"2026-06-15T06:09:34.903Z","creation":"2026-06-15T03:08:41.867Z"},"accession":"S-EPMC12494807","cross_references":{"pubmed":["41049110"],"doi":["10.1016/j.xops.2025.100915"]}}