Overview LCA/EOSRD Retinitis pigmentosa Multimodal imaging References Overview Gene (OMIM no.) RPE65 (#180069) Function of gene/protein Protein: retinoid isomerase Recycling...

Retinitis pigmentosa is a genetically heterogenous group of inherited retinal dystrophies mainly characterised by predominant rod impairment initially followed by subsequent cone dysfunction. Over 80 genes have been attributed to RP resulting in significant clinical heterogeneity. 20-30% of patients have syndromic RP. The most common are Usher syndrome and Bardet-Biedl syndrome.

Overview LCA/EOSRD Retinitis pigmentosa Additional information Multimodal imaging References Overview Gene (OMIM No.) RDH12 (#608830) Function of gene/protein Protein: retinal...

Overview Retinitis pigmentosa Additional information References Overview Gene (OMIM No.) GNAT1 (#139330) Function of gene/protein Protein: G-protein alpha subunit of...

Overview Retinitis pigmentosa Additional information References Overview Gene (OMIM No.) PRPF3 (#607301) Function of gene/protein Protein: Pre-mRNA processing factor 3...

Overview Retinitis pigmentosa Additional information References Overview Gene (OMIM No.) PRPF31 (#606419) Function of gene/protein Protein: Pre-mRNA processing factor 31...