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.) ABHD12 (#613599) Function of gene/protein Protein: Lysophosphatidylserine lipase ABHD12 Hydrolyses...

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

Retinitis pigmentosa is the most common form of inherited retinal degeneration worldwide. It causes progressive but permanent visual impairment. Patients typically experience night blindness and blind spots in their side vision initially, progressing to central visual disturbance later on, causing difficulties in tasks like reading and watching TV.

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

Stem cells are immature cells with the ability to develop into different specialised cell types in the body. Apart from being utilised in the laboratory to study diseases and to discover new drugs, it is also being explored as a treatment option for various eye conditions in the form of stem cell transplantation.

Overview Retinitis pigmentosa Cone/cone-rod dystrophy Additional information Multimodal imaging References Overview Gene (OMIM No.) RPGR (#312610) Function of gene/protein Protein:...

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