World’s First: Gene Therapy Successfully Treats Rare Retinal Disease

NAPLES – “I agreed to be the first patient not just for myself, but for everyone living with the same difficulties. Before gene therapy, everything was blurry, indistinct. Now I can go out alone at night, I recognize colleagues, the shapes of objects.I can read TV subtitles from a distance, and I see the lanes in the warehouse where I work without tripping. It’s not just seeing better-it’s starting to live.” This is how the first patient in the world treated with an innovative gene therapy for usher type 1B syndrome, a rare hereditary disease associated with progressive deafness and blindness, described his experiance.

The 38-year-old Italian man,operated on last July at the Ophthalmology clinic of the University of Campania “Luigi Vanvitelli,” is no longer considered legally blind a year later. He’s emerged from the darkness. Previously, his vision was less than one-tenth, and now he perceives the contours of the visual field, no longer seeing the world through a keyhole.This extraordinary result comes from a novel gene therapy method developed by the Telethon Institute of Genetics and Medicine (Tigem) in Pozzuoli. It has also been used on seven other Italian patients,treated at the Naples center between October 2024 and April 2025. Preliminary data from these seven cases confirm the therapy’s safety and tolerability, with plans to treat seven more patients soon.

“The gene therapy procedure itself isn’t particularly complex,” explains Prof.ssa Francesca Simonelli, Professor of Ophthalmology, Director of the Ophthalmology Clinic, and Head of the Advanced Eye Therapies Center at the University of Campania “Luigi Vanvitelli.” “It’s performed under general anesthesia and involves injecting two distinct viral vectors under the retina, each carrying half of the missing genetic information.”