Novel gene implicated in an inherited form of blindness, retinitis pigmentosa, identified

June 2017, Adapted from FHS article

Researchers from South Africa including Professor Raj Ramesar (IDM Member) and PhD student Lisa Roberts, both of the Division of Human Genetics, UCT, as well as colleagues from Israel, the Netherlands and the USA, have identified a novel gene which is implicated in an inherited form of blindness, retinitis pigmentosa. The gene, called IDH3A, is the third novel gene identified by the Division of Human Genetics, in collaboration with international partners. IDH3A is important in all human tissues, but its mutations only result in degenerative retinal disease (dystrophy), the cause of which is not yet understood. The findings were published in Ophthalmology.

“All of the research on inherited retinal disorders has the aim of understanding the disease mechanism which leads to visual loss – with the ultimate objective of halting progression of disease, and creating precise molecular interventions,” says Prof. Ramesar.    

Full article: http://www.health.uct.ac.za/news/press-release-international-consortium-including-uct-geneticists-identifies-novel-blindness