PRPF31

Disease Category: autosomal dominant

Patient Population:

Active Clinical Trials: 1 recruiting

Check clinicaltrials.gov for updates

Treatment Options:

Strategies to Preserve Eye Health:

Institution(s) Conducting Research: Oslo University Hospital

A FACE OF RP

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BRIEF DESCRIPTION

PRPF31 retinitis pigmentosa is a hereditary form of retinal degeneration caused by mutations in the PRPF31 gene. A protein that is part of the spliceosome, a complex that removes introns and produces mature mRNAs. Some characteristics of PRPF31 mutations include incomplete penetrance, meaning that a.) some people with a disease-causing mutation in PRPF31 will not experience RP symptoms and b.) symptomatic carriers are often observed in affected families.

Retinitis pigmentosa is a progressive disease that causes photoreceptor cells in the retina to degenerate. Symptoms of include

loss of night vision, loss of side vision, sensitivity to bright light, loss of color vision, very low vision, and sensation of flashing or twinkling light.

While there is no current treatment for retinitis pigmentosa, medications can help treat complications. A medical professional can diagnose the condition and manage it to improve symptoms.

IN THE NEWS

Jun 30, 2022

CLINICAL TRIAL | Natural History of PRPF31 Mutation-Associated Retinal Dystrophy

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

Jul 27, 2021

Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond

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.

Jul 5, 2020

Biogen boosts gene therapy strategy with Harvard pact focused on inherited eye disease

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

Mar 21, 2020

Approaches to Characterize novel pathogenic missense Variants in PRPF31

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

Apr 5, 2017

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

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

Nov 25, 2016

Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa

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

Jul 29, 2011

Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa

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

Mar 9, 2007

Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa

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