Correlation between Genotype and Phenotype in 69 Chinese Patients with USH2A Mutations: A comparative study of the patients with Usher Syndrome and Nonsyndromic Retinitis Pigmentosa.

Abstract excerpt

PURPOSE: The aim of this study was to analyse 69 Chinese patients with USH2A mutations and to assess the genotype-phenotype correlation. METHODS: All 36 Usher syndrome type IIA patients and 33 nonsyndromic RP (retinitis pigmentosa) patients underwent clinical examinations. Eye examinations included best-corrected visual acuity, slit-lamp biomicroscopy, fundus examination with dilated pupils, fundus fluorescent...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Age of Onset
• Share to Electroretinography