USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa

AIMS: ) gene variant profile in a large cohort of Chinese patients with non-syndromic retinitis pigmentosa (RP) or Usher syndrome type II (USH2) and to explore the genotype-phenotype correlation. METHODS: disease-associated variants. Both personal medical history and family histories were reviewed. Ocular examinations were performed and audiograms were recorded if hearing loss was suspected. The genotype-phenotype correlation was evaluated by statistical analyses. RESULTS: variants. CONCLUSIONS: heterogeneity and provide valuable information for future therapies.