A groundbreaking gene therapy trial in Italy has restored sight to a patient with an atypical hereditary condition.

The 38-year-old man was born with Usher syndrome type 1b, a rare genetic disorder that causes deafness from birth and progressive blindness. He is the first person in the world to receive this treatment and has shown dramatic improvement one year after the procedure.

“Before, everything was blurry, indistinct. Now, I can go out at night alone, recognise colleagues, read subtitles on TV from afar, see the aisles of the warehouse where I work without stumbling,” he said in a statement.

The therapy – developed by the Telethon Institute of Genetics and Medicine (TIGEM) in Pozzuoli – tackles the challenge of delivering a specific gene whose mutation causes Usher syndrome.

The surgery took place at an ophthalmology clinic last July at the University of Campania “Luigi Vanvitelli” in southern Italy. Changes were observed within two weeks and continued over time: both the patient’s near and distant vision drastically improved, even in low light conditions. No serious side effects have been reported.

So far, eight patients have undergone the treatment, with another trial phase – involving seven more subjects – set to begin in upcoming months. While these are preliminary results, TIGEM researchers remain optimistic for future fine-tuning of the experimental therapy.

“This is still an ongoing trial, but the signals observed so far offer new hope for other inherited eye diseases that currently have no treatment options,” said study member, Professor Francesca Simonelli.