In a world first, a man suffering from vision loss in Italy has regained his sight thanks to an experimental gene therapy, reports Euronews.
The 38-year-old has Usher syndrome type 1b, a rare genetic disorder that causes profound deafness from birth and a progressive loss of vision, leading to blindness.
The surgery took place at the ophthalmology clinic of the University of Campania “Luigi Vanvitelli” in southern Italy, last year. At the time, the patient had a visual capacity of less than a tenth, seeing the world as if he were looking at it through a keyhole.
A year later, he has recovered both his near and far sight, even in low-light conditions, his doctors said during a press conference.
“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,” the patient said.
“It’s not just seeing better, it’s starting to live,” he added.
The operation marks the first clinical demonstration of the effectiveness of the new gene therapy, which was developed by researchers at the Telethon Institute of Genetics and Medicine (TIGEM) in Pozzuoli.
The operation involves injecting two separate viral vectors under the retina, each carrying half of the gene needed to produce the protein absent in Usher 1B patients.
“The operation takes place under general anaesthesia, but recovery is rapid,” said Francesca Simonelli, Director of Vanvitelli University’s ophthalmology clinic.
“Already after a few days, an improvement is noticeable. At two weeks, the first patient could see better and at one month, he was able to find his way even in the dark.
“Today, one year later, his sight has been restored.”
Seven other patients also underwent the procedure between October 2024 and April this year, none of whom had serious side effects.
The preliminary results are encouraging and will be followed by a second experimental phase, with seven more patients entering the programme.
If it is successful, the therapy could become a new option for many patients suffering from genetic eye disorders, the specialists said.
See more from MedicalBrief archives:
Optogenetics breakthrough restores partial sight in retinitis pigmentosa
Gene therapy improves sight in paediatric blindness
NHS go ahead for £600,000 gene therapy to treat rare eye disorder