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

ABSTRACT:

Purpose

To characterize the genetic, structural, and patient-reported visual function features in a multicenter cohort of patients with retinitis pigmentosa GTPase regulator (RPGR)-associated retinal degeneration.

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 RPGR-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.

Methods

Genetic variants were identified and visual acuity (VA) was recorded. Retinal phenotype was classified using fundus autofluorescence

SUBMITTER: Gouveia N 

PROVIDER: S-EPMC12494807 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature