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Retinitis pigmentosa, what is the disease from which Totò Cascio suffers

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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. On the occasion of the presentation of the short film ‘With open eyes’ which tells the story of Totò Cascio, the extraordinary child protagonist of Giuseppe Tornatore’s Oscar-winning film, ‘Retina in salute’ interviewed Alberto Auricchio, professor of Medical Genetics at the “Federico II” University of Naples and coordinator of the Molecular Therapies research program of the Telethon Institute of Genetics and Medicine (Tigem) of Naples.

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What is retinitis pigmentosa?

It is a genetic disease and is passed on from parents. In some cases, they may be healthy carriers of the disease or one parent may have the disease and pass it on to their child. In reality, it is a group of diseases because there are about 80 different forms, that is, there are 80 genes that if mutated individually can give a different form of retinitis pigmentosa.

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At what age and with what symptoms does it manifest itself?

The error in the DNA occurs at the moment of conception, but the disease can manifest itself in adolescence or even at a young age. It is a progressive disease in which vision decreases gradually. At first you cannot see in the evening with little light because the disease affects the peripheral retina and then gradually the visual field narrows because the central retina is also affected and therefore also daytime vision is lost up to blindness.

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How to find out and how is the diagnosis made?

Until a few years ago, going to ‘fish’ which of these 80 genes was mutated was difficult, today there are new DNA sequencing techniques in parallel and it is therefore possible to sequence all the genes that cause retinitis pigmentosa. Therefore, thanks to the advancements in technology, the time to arrive at a diagnosis has been reduced. The diagnosis is made with instrumental tests that measure the electrical activity of the eye: once the diagnosis of retinitis pigmentosa has been confirmed, a genetic test is carried out.

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What consequences does this pathology have on the life of those who suffer from it?

Especially when there is a narrowing of the visual field, the quality of life is strongly compromised because it is difficult to perceive objects placed sideways or there are no steps or low obstacles. The visual field alteration is progressive and can also involve the central part of the retina, with loss of central vision. Furthermore, there is an increased sensitivity to glare, contrasts vanish and it becomes difficult to perceive the surrounding environment. All this prevents those who suffer from it from carrying out most of the activities of daily life such as reading, driving, playing sports and it is all much more difficult to accept especially when retinitis arises at a young age.

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How is it currently being treated?

In fact, today there are no real drugs, only supportive therapies such as vitamins and antioxidants that can slow the progression of the disease. In addition, the eyes are protected from light with special lenses because patients develop photophobia.

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What is the research working on?

There are 23 projects financed by the Telethon Foundation on this hereditary pathology with an investment of over 5.5 million euros. Research projects with the aim of identifying the causes of the disease and finding concrete answers in terms of treatments and therapies. Together with the group led by Alessandra Recchia of the University of Modena and Reggio Emilia, at Tigem in Pozzuoli we are analyzing and evaluating the use of gene editing, a refined and innovative scientific technique that involves adding a correct copy of the gene to the internal cells of the retina or, in the most severe forms, the deactivation of the mutated copy – and therefore “defective” – ​​of the gene. In this way, a targeted cut is made at the level of the copy of the gene that produces the toxic protein, deactivating it and leaving only the healthy copy of the gene that functions normally.

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Where are we in the research phase?

The therapeutic approach in which attempts are made to correct the mutated gene is still in clinical trials: the first patients have been treated, but the results of the trial have not yet been disclosed. On the other hand, the drug voretigene neparvovec is already available, which adds a copy of the corrected gene. Basically, the drug is a viral particle that is a bit like the Trojan horse and carries the correct DNA into our cells. A bit like inactivated viruses used for Covid vaccines, in the same way they are injected into the retina, freeing healthy DNA and restoring the function lost to these cells due to genetic alteration. In short, they turn on an off retina and make it work. The big advantage is that it is a once in a lifetime therapy.


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