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

11 Feb 2025

Abstract excerpt

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...

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PMID: 39932467
DOI: 10.1167/tvst.14.2.16

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