A total of 45 pathogenic/likely pathogenic/uncertain clinical significance variants were identified among 17 retinitis pigmentosa (RP)‐causative genes, including pathogenic (n = 22), likely pathogenic (n = 14), and uncertain clinical significance (n = 9) variants, with 65% of the mutations found in the top three genes (USH2A, MIM#608400; RP1, MIM#603937; EYS, MIM#612424), and the top three genes account for 56.5% of diagnostic probands.. The gene discussed is USH2A; the disease is retinitis pigmentosa 1.