Request. After reading the article on Valeria Marini, I take the opportunity to ask a question. I am 78 years old and for about 40 years I have noticed that small macules, in both eyes, have become enlarged to the point of compromising my vision and with it the quality of life. Over the time I have had eye exams every year, I have never been prescribed drugs. I was told that it is a genetic disease and that is tapeto-retinal degeneration. I ask you: have studies been done on this disease and is there hope that in the near future it can be cured?
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Answer. Hereditary retinal dystrophies are a group of inherited diseases of the retina that affect the nerve retina, sensitive to light, and its outermost layer, the retinal pigment epithelium, and are the cause of progressive reduction of vision leading to blindness in some cases. There are different types of retinal dystrophies, some affect the retina extensively and are also known as tapeto-retinal degenerations (cone dystrophy, rod dystrophy or retinitis pigmentosa) and others instead involve mainly or exclusively the macula (Stargardt’s disease, of Best), the central region of the retina responsible for distinct vision. In the forms with prevalent involvement of the cones, the cells of the retina responsible for daytime vision, the symptoms will be characterized by difficulty in central vision, glare, altered color perception, and central alteration of the visual field with preservation of peripheral vision. Tapeto-retinal degenerations with prevalent involvement of rods, the cells responsible for night vision, are characterized by difficulty in vision in low light and dark conditions and loss of peripheral vision with preservation of good central vision up to the most advanced stages of illness.
The diagnosis of hereditary retinal dystrophy requires a complete eye examination with an examination of the fundus oculi and the execution of instrumental tests such as electro-functional tests that evaluate the retinal function, the OCT (a kind of CT scan of the retina with high resolution) that studies the alterations of the individual retinal layers and fluorangiography an examination with a contrast medium that highlights the alterations of the retinal tissue and the vascularity of the retina. Genetic DNA analysis makes it possible to identify the specific mutation of the gene that caused the disease. To date, the available therapies slow down the degenerative process of the retina with retinal supplements based on antioxidants. New therapies are being tested such as the use of neurotrophic drugs and among these the growth factor of nerve cells, stem cell therapy and gene therapy to replace the non-functioning portions of DNA within cells with viral vectors. diseased retinal.
* Researcher at the Ophthalmology Clinic of Chieti, University “G.d’Annunzio” of Chieti-breaking latest news, Regional Center of Excellence in Ophthalmology, National Center of High Technology in Ophthalmology (CNAT)
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