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PRPF31-retinitis pigmentosa: Challenges and opportunities for clinical translation.

Vision research - 1 Dec 2023

Aweidah Hamzah, Xi Zhouhuan, Sahel José-Alain, Byrne Leah C

Abstract excerpt

Mutations in pre-mRNA processing factor 31 cause autosomal dominant retinitis pigmentosa (PRPF31-RP), for which there is currently no efficient treatment, making this disease a prime target for the development of novel therapeutic strategies. PRPF31-RP exhibits incomplete penetrance due to haploinsufficiency, in which reduced levels of gene expression from the mutated allele result in disease. A variety of model...

Topics

Humans
Mutation
Retinitis Pigmentosa
Eye Proteins
Pedigree

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 37714045
DOI: 10.1016/j.visres.2023.108315
PMCID: PMC10872823

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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