Two Italian brothers aged 8 and 3 who suffered from the same hereditary disease, retinal dystrophyregained their sight thanks to a genetic treatment to which they were subjected at the Gemelli Polyclinic in Rome, in collaboration with the Bambino Gesú pediatric hospital in the Italian capital.
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The 3-year-old girl, who now distinguishes details and can move around calmly in dimly lit environments, has become the youngest patient in Italy to receive this therapy as part of a joint project between both entities for adult and pediatric patients with this congenital malformation.
“Gene therapy for retinal degeneration with hereditary transmission represents the first concrete treatment to prevent or correct the complete deterioration of visual function and plays a fundamental role in future therapeutic strategies”, said Giancarlo Iarossi, from the Ophthalmology Unit of the Bambino Gesu.
This disease is characterized by the mutation of the two pairs of the Rpe65 gene, responsible for the production of a key protein in the process of converting light into an electrical signal in the retina. The best known is retinitis pigmentosa (Rp), of which its early form, Leber’s congenital amaurosis, was the one suffered by the brothers, according to local media.
In Italy, there are between 100 and 120 people affected, who suffer from poor night vision, narrowing of the visual field and may experience a severe and progressive reduction in visual capacity up to blindness.
The therapy consists of a single injection into the subretinal space of both eyes of a functional copy of the Rpe65 gene, which, once transported in the cells, is capable of significantly and lastingly restoring the patient’s visual capacity.
“Retinitis pigmentosa is a terrible disease that leads to blindness in the most severe forms and for which there was no effective therapy until recently. Finally today, even in a few patients, we can offer an effective treatment, the result of international scientific studies carried out in very few research and treatment centers in the world”, explained Stanislao Rizzo, director of the Ophthalmology Unit at Gemelli.
With information from EFE