Question. Hi, my name is Rebecca and I am writing to ask you at what point is the research for retinitis pigmentosa. Unfortunately, my grandmother has been suffering from this rare disease for years, now she has almost lost her sight completely, she is very discouraged and my biggest dream would be to be able to do something about her big problem. I know there is probably no cure, but I would like to find out more. I’m a 20 year old girl who looks after her grandmother and who loves her madly I would do anything for her. Thanks for your attention.
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Answer. Dear Rebecca, I fully understand the gravity of the situation and the impact that this disease can have on a psychological level. Retinitis pigmentosa, the disease your grandmother suffers from, is a progressive retinal dystrophy that includes a heterogeneous group of genetic disorders. There are many genes identified as the cause of disease, the heterogeneity of which depends on the fact that:
– Different genes can cause retinitis pigmentosa;
– Different mutations within the same gene can cause retinitis pigmentosa;
– A mutation within the same gene can cause variable manifestations of retinitis pigmentosa.
It is important today to identify the genetic mutation responsible for the disease. Gene therapy for retinal dystrophies, such as retinitis pigmentosa, is one of the biggest advances in this area. To date, the drug voretigene neparvovec has been approved by the FDA and the European Medicines Agency (EMA) for the treatment of hereditary retinal dystrophies caused by mutations in the RPE65 gene and with residual functional retinal cells. Research is investing heavily in this type of therapy, in order to develop new drugs useful for other genetic mutations. For example, gene therapy for X-linked retinitis pigmentosa with RPGR mutations is under study. The hope is that new therapeutic strategies may be available in the years to come. However, to date, only very select cases can receive this type of treatment.
As for everyday life, it is important to protect yourself from the sun. There are sunglasses with special filters for this type of disease. Follow-up visits are also important to assess the ocular condition and that possible complications such as macular edema do not arise. I hope I was helpful.
* Teresio Avitabile, director of the ophthalmology clinic of Catania and general secretary of the Italian Society of Ophthalmology
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