Breakthrough in the fight against blindness: gene therapy restores sight to a 38-year-old man

Naples marks a new milestone in genetic medicine. For the first time in the world, a patient suffering from Usher syndrome type 1B, a rare hereditary disease that causes progressive deafness and blindness, has recovered his sight thanks to a next-generation gene therapy. The surgery, performed in July 2024 at the Ophthalmology Clinic of the University of Campania 'Luigi Vanvitelli', restored the 38-year-old Italian man's ability to see near and far, even in low-light conditions.

"Before, everything was blurred, indistinct. Now I recognise colleagues, read subtitles on TV and can go out alone at night. It's not just seeing better: it's starting to live," says the patient.

Usher 1B syndrome is caused by mutations in the Myo7A gene, which is too large to fit into conventional viral vectors. Thanks to an innovative technology developed at the Telethon Institute of Genetics and Medicine (Tigem) in Pozzuoli, researchers have devised a 'dual-vector' system: two viruses each carry half of the gene, which once 'reassembled' in the eye allows the missing protein to be produced and visual function to be restored.

The international clinical trial Luce-1, sponsored by biotech AAVantgarde Bio, is now in phase I/II. Seven more patients have already been treated in Naples, with no serious adverse events. "Preliminary results confirm safety and tolerability," explains Francesca Simonelli, director of the Vanvitelli Eye Clinic.

Usher syndrome type 1B affects around 20,000 people in Europe and the United States. To date, there have been no effective therapies against progressive vision loss. "This approach could also be extended to other inherited eye diseases due to overgrown genes," emphasises Alberto Auricchio, director of Tigem.