Night blindness, the development of tunnel vision and the progressive decrease in central vision. These are the three main symptoms with which retinitis pigmentosa manifests itself, a genetic disease that affects about 15 thousand people in Italy. Unfortunately today there are no real drugs, but only supportive therapies such as vitamins and antioxidants that can slow down the progression of the disease.
To this letter concerning the new therapies for retinitis pigmentosa he replies Luigi Mele, eye surgeon of the Luigi Vanvitelli University of Naples and director of the Italian Society of Ophthalmology (Soi). Ophthalmology specialists answer doubts, perplexities and questions regarding vision. Send your questions to [email protected]
Request. My 41-year-old wife has suffered from retinitis pigmentosa since birth. I would like to know if there are any research advances regarding this genetic disease. I state that we have already done the whole process of visits and checks and we are still awaiting a genetic investigation response to understand what type of disease is seen as it is rich in facets. We have read an article on your site that talks about an alga that contains photosensitive proteins that could benefit those with this disease. I would like to have more information on this as well.
Andrea
Answer. We are in the field of optogenetics, the science that combines optical and genetic techniques aimed at the study and enhancement of neuronal signals. Regarding the pathology from which his wife suffers, studies are underway at the University of Basel and Pittsburgh based on the insertion into certain viruses of a gene fragment, extracted from algae, specific for the production of opsin, a key protein in the visual transduction cycle. These viruses are injected into the eyeball serving as gene transporters within diseased retinal cells in the hope that opsin activation will improve visual processes. The study, however, is still in its early stages.