Phenotypic Distinctions Between EYS- and USH2A-Associated Retinitis Pigmentosa in an Asian Population.

ABSTRACT:

Purpose

This study compares clinical characteristics of retinitis pigmentosa (RP) associated with mutations in the EYS and USH2A genes in a Southeast Asian cohort.

Methods

Prospective single-center study of families with EYS- or USH2A-associated RP seen at the Singapore National Eye Centre. Comprehensive ophthalmic evaluations, multimodal imaging, genetic testing, and longitudinal follow-up identified clinically useful differentiating features between the two genotypes.

Results

A total of 300 families with RP were enrolled, with EYS- and USH2A-associated RP, accounting for 24.7% of all probands and 50.7% of solved or likely solved cases. USH2A cases were predominantly nonsyndromic RP (75%). EYS-associated RP was more severe in functional and structural outcomes, and p

SUBMITTER: Yeo EYH 

PROVIDER: S-EPMC11817848 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature