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

This study enrolled the largest cohort of Chinese patients with USH2A and identified the most prevalent USH2A variants in USH2 and RP. We found that the patients with USH2 had more truncating variants and experienced an earlier decline in visual function. The findings enhance the current knowledge of USH2A heterogeneity and provide valuable information for future therapies.