RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.

ABSTRACT:

Purpose

To review and describe in detail the clinical course, functional and anatomic characteristics of RP2-associated retinal degeneration.

Design

Retrospective case series.

Participants

Male participants with disease-causing variants in the RP2 gene.

Methods

Review of all case notes and results of molecular genetic testing, retinal imaging (fundus autofluorescence [FAF] imaging, OCT), and electrophysiology assessment.

Main outcome measures

Molecular genetic testing, clinical findings including best-corrected visual acuity (BCVA), qualitative and quantitative retinal imaging analysis, and electrophysiology parameters.

Results

Fifty-four molecularly confirmed patients were identified from 38 pedigrees. Twenty-eight disease-causing variants were i

SUBMITTER: Georgiou M 

PROVIDER: S-EPMC10567581 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature