Retinitis pigmentosa (RP; OMIM 26800) is the term used to define a heterogeneous group of hereditary diseases that cause variable degeneration and loss of retinal cells. Its symptoms include progressive visual dysfunction, principally night blindness, visual field construction and eventual central vision loss. At the genetic level, RPs are the most heterogeneous type of retinal dystrophy, with more than 80 disease-causing genes. In this study, we included a trio of a family from China: a mother and her son, both affected by RP, and an unaffected father. For whole-exome sequencing analyses to identify all pathogenic variants related to RP. A combination of next-generation sequencing (NGS) and bioinformatics tools was used in this study to explore all single nucleotide polymorphisms (SNPs) that exist and ultimately identify mutations linked to Retinitis pigmentosa. The pipeline was applied to public whole-exome sequencing (WES) data of blood collected from this family. A total of 53 variants in 50 genes were identified in the three samples. Seven of these genes are potentially associated with retinal dystrophies and have already been shown to play a role in retinal disease; notably, the RP1L1 gene is the cause of recessive retinitis pigmentosa (RP88). This study provides the genetic profile of a Chinese family (Trio) and gene-specific variants related to RP phenotypes.