RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers.

ABSTRACT:

Purpose

RP2-associated retinopathy typically causes severe early onset retinitis pigmentosa (RP) in affected males. However, there is a scarcity of reports describing the clinical phenotype of female carriers. We tested the hypothesis that RP2 variants manifest in female carriers with a range of functional and anatomic characteristics.

Design

Retrospective case series.

Methods

Females with disease-causing variants in RP2 were identified from investigation of pedigrees affected by RP2 retinopathy. All case notes and results of molecular genetic testing, retinal imaging (fundus autofluorescence imaging, optical coherence tomography (OCT)), and electrophysiology were reviewed.

Results

Forty pedigrees were investigated. Twenty-nine pedigrees had obligate carriers o

SUBMITTER: Georgiou M 

PROVIDER: S-EPMC11139645 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature