Mutations in pre-mRNA processing factors (PRPF3, 4, 6, 8, 31, SNRNP200, and RP9) have been linked to 15–20% of autosomal dominant RP cases.

RP, classified as a rare disease, is the most common cause of inherited blindness worldwide, affecting 1:3500, but extremely heterogeneous.

Study shows a retinal dystrophy-related phenotype spectrum and its genetic etiology; highlights the complexity of spliceosomal gene network.

Zilin Zhong , Min Yan , Wan Sun , Zehua Wu , Liyun Han , Zheng Zhou , Fang Zheng , Jianjun Chen  | Scientific Reports | 6 | 37840 | 25...

To identify the cause of retinitis pigmentosa (RP) in UTAD003, a large, six-generation Louisiana family with autosomal dominant RP.