Question. Hello Dr. Avitabile, my name is Raffaella and I need some information. My dad is suffering from retinitis pigmentosa with some genetic mutations that I indicate separately. I know that there is no cure for the moment, but I would like to ask you if there is a drug that at least slows down this disease. I have also read that taking supplements or foods that contain Omega 3 and lutein could be helpful. What do you think about it? As for sunglasses, which lenses do you recommend us to use?
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Answer. Dear Mrs. Raffaella, Your father is affected by the retinitis pigmentosa 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.
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.
As for the supplements, these can be useful if the patient’s diet is not complete or there are deficiencies, otherwise a real efficacy has not been demonstrated. Sunglasses, on the other hand, are very important. There are Zeiss lenses with special filters for retinitis pigmentosa, namely F 60-90 and F 540-580. I hope I have been helpful.
* Teresio Avitabile, director of the ophthalmology clinic of Catania and general secretary of the Italian Society of Ophthalmology
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