In this study, novel compound heterozygous variants in the USH2A gene, c.3304C>T (p.Q1102*) and c.4745T>C (p.L1582P), were prosecuted as disease causative factors for a Han-Chinese pedigree with RP by a full ophthalmological examination, WES, bioinformatics analysis, Sanger sequencing, and co-segregation analysis. The gene discussed is USH2A; the disease is retinitis pigmentosa 1.