The same hereditary disease almost made them blind: today, however, two siblings have regained their sight thanks to gene therapy

A little brother and sister aged 8 and 3 had the same form of hereditary retinal dystrophy, a progressive and disabling disease. Included in a project of the Jesus child at the Policlinico of Rome, they were treated with an innovative gene therapy and now they are back to see the world around them.


In front of they did not see well. On the contrary: they had very bad night vision, they had one very narrow field of view and at some point they even came see no more.

Now can differ i Details of Faces of their parents and to move in poorly lit environments, indoors or at home, without fear of tripping or getting hurt.

In the middle ofin one’s life little brother it is a little sister of 8 and 3 yearsthere were two surgical treatments with the Gene therapy thanks to those who have regained complete sight.

baby eyes

Both were actually affected by the same form of hereditary retinal dystrophya progressive and debilitating disease both in terms of schooling and entry into the world of work.

The disease made her practically blind. Both of them. But then they were born in a project and 2021 for the joint management of pediatric and adult patients with hereditary retinal degeneration set up by the ophthalmology units of the Agostino Gemelli IRCCS University Polyclinic Foundation and the Bambino Gesù Pediatric Hospital in Rome and months later they cured. Both of them.

The boy was the first to undergo treatment: he had received the diagnosis on his own 3 years and he was in the register of patients eligible for gene therapy as long as he had all 7. The little sister, on the other hand, is 3 years old the youngest patient in Italy to receive this treatment.

The gene therapy they did was authorized by Aifa in 2021 (voretigene neparvovec) and is designed to treat the rare forms of hereditary retinal dystrophy caused by mutation of both copies of RPE65 gen.

It is a gene involved in the production of a key protein in the process Conversion of light and electrical signal in the retina. The gene, essentially, that turns vision on or off.

The two siblings suffered especially early retinitis pigmentosa: also called Leber’s congenital amaurosis, is the best known of the retinal dystrophies and Transmission inherited.

Retinitis pigmentosa, as explained by the experts of the Child Jesus of Rome, can be caused by the mutation of approx. 100 genes involved in the mechanisms of vision and one of these genes is RPE65.

The mutations that affect its copies are Totally rarethink globally they affect approx 1 in 200 thousand people in the world while in Italy it would be affected 100-120 people.

Therapy is based on a “one shot”that is, it consists of one single syringe of a functioning copy of the RPE65 gene in the subretinal space of both eyes.

Transport in the cells of a associated adenovirusthe healthy gene is able to restore vision in an important and above all lasting way.

The two children who live in Sardinia with their parents, who arrived in Italy from Senegal for work a few years ago, today they are good.

The two children together with the experts of the Child Jesus of Rome. Photo credit: Bambino Gesù Pediatric Hospital.

The son’s post-surgery course was completed in February 2022, a network shows Improvement of all subjective visual parameters, that is, the ability to distinguish a spatial detail and to see that peripheralBesides the vision crepuscular. “The same is true for objective parameters through specific tests such as the test that evaluates the sensitivity of cones and rods, the retinal cell population that allows us to see.” are specified by the baby Jesus.

The little sister, on the other hand, was treated in June 2022 and also her follow-up, which was completed in the last days, showed a strong recovery of the View.

Both, in short, are back on see the world.

source | Bambino Gesù Pediatric Hospital in Rome

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