Profiling of visual acuity and genotype correlations in RP2 patients: a cross-sectional comparative meta-analysis between carrier females and affected males.

ABSTRACT:

Background

X-linked retinitis pigmentosa (XLRP) is the most severe form of retinitis pigmentosa (RP) and accounts for 15-20% of all RP cases. In this study, we investigated the progression of visual acuity loss across age groups in female carriers and compared it to affected males.

Methods

A PubMed literature search was conducted, and RP2 cases were included based on specific inclusion criteria. Visual acuity (VA), refractive error spherical equivalent (SE), and retinal findings were recorded. Cross-sectional analyses investigated the relationship between VA and age in carrier females and affected males. Genotype-phenotype VA correlations were studied using t-tests.

Results

35 carrier females and 28 affected males with confirmed RP2 mutations were collected from 13 st

SUBMITTER: Saeed OB 

PROVIDER: S-EPMC9873705 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature