Article
Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities.
Progress in retinal and eye research - 1 Jul 2022
Schneider Nina, Sundaresan Yogapriya, Gopalakrishnan Prakadeeswari, Beryozkin Avigail, Hanany Mor, Levanon Erez Y, Banin Eyal, Ben-Aroya Shay, Sharon Dror
Abstract excerpt
Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual impairment phenotypes caused by pathogenic variants in at least 277 nuclear and mitochondrial genes, affecting different retinal regions, and depleting the vision of affected individuals. Genes that cause IRDs when mutated are unique by possessing differing genotype-phenotype correlations, varying inheritance patterns,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.