Vol 9 (2024): Continuous Publishing
Review paper
Published online: 2024-08-22
expresRetinitis pigmentosa caused by mutations in the RPGR gene — review of the literature
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DOI: 10.5603/oj.99259
Ophthalmol J 2024;9:114-120.
Abstract
Retinitis pigmentosa (RP) is a varied collection of inherited disorders marked by numerous genes, mutations, and clinical manifestations. Progress in the treatment hinges on identifying causative genes and mutations, involving gene discovery and mutation screening for potential gene therapy. Significant advances have been made in detecting RP genes and mutations, with 30–80% detection rates using techniques like next-generation sequencing (NGS), revealing several novel RP genes and clarifying many unresolved cases. However, discrepancies between molecular findings and clinical symptoms often require genetic reevaluation. This review provides a concise overview of the current strategies and challenges in gene discovery and mutation detection in RP. It suggests that these considerations may also be relevant to other inherited retinal diseases. This review examines the RPGR gene’s pivotal role in X-linked RP (XLRP) and associated retinal dystrophies, focusing on its isoforms’ impact on ciliary function and protein trafficking. We discuss the genetic and clinical implications of RPGR mutations, particularly novel pathogenic variants, and their genotype-phenotype correlations. Ultimately, this synthesis aims to enhance understanding of RPGR’s role in retinal dystrophies, informing future research and potential treatments.
Keywords: next-generation sequencinginherited retinal diseasesgenetic screeningRPGRretinitis pigmentosagenotype-phenotype correlationRPGR-related retinal dystrophies
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