Natural history through temporal systemic evaluation of subjects identified with PRPF31 mutation-associated retinal dystrophy.

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.

Mutations in PRPF31 cause many more cases of RP than do mutations in RPE65, the gene targeted by Spark Tx Luxturna, Harvard researchers say.

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.

RP mutations have also been identified in a group of housekeeping genes that are involved in pre-mRNA splicing and represent . . .

Identification of RNA transcripts associated with PRPF31-containing splicing complexes using an immunoprecipitation-coupled microarray . . .