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Further studies from other continents/ethnicities are needed for comprehensive estimates of the prevalence of MMD globally. © Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.AIMS To investigate the frequency of USH2A mutation and the clinical and genetic differences between Usher syndrome type II (USH2) and retinitis pigmentosa (RP) in a large cohort of Chinese patients. METHODS A total of 1381 patients with inherited retinal disease (IRD) were recruited. The phenotypic and gen