Retinitis Pigmentosa GTPase regulator-Associated Retinal Degeneration: Integrating Patient-Reported Outcomes, Genetic, and Structural Biomarkers.

Purpose: To characterize the genetic, structural, and patient-reported visual function features in a multicenter cohort of patients with retinitis pigmentosa GTPase regulator ( Design: A cross-sectional, exploratory, international, multicenter study conducted across 3 academic centers. Subjects: The study included 102 eyes from 51 patients (37.3% female) with genetically confirmed Methods: Genetic variants were identified and visual acuity (VA) was recorded. Retinal phenotype was classified using fundus autofluorescence. Structural retinal features were assessed using spectral-domain OCT to measure ellipsoid zone (EZ) area and width, central subfield thickness (CST), central point thickness (CPT), subfoveal outer nuclear layer (ONL) thickness, photoreceptor outer segment length (PROS), foveal outer segment pigment epithelial thickness (FOSPET), and FOSPET-PROS ratio. Patient-reported visual function was measured via the Michigan Retinal Degeneration Questionnaire (MRDQ). Main Outcome Measures: Associations between genetic variant location, retinal structural parameters, and VA, as well as correlations between structural measures and MRDQ domain scores. Results: Structural endpoints, including EZ area, CPT, PROS, and FOSPET, correlated significantly with all MRDQ domains, and higher disability scores on MRDQ were associated with more advanced retinal degeneration. There were no significant differences in VA or structural features between Conclusions: This study underscores the value of combining genetic, structural, and patient-reported outcome measures in understanding Financial Disclosures: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.