Stuart Haxell, a 47-year-old man from Sligo, Ireland, has regained his sight after undergoing groundbreaking ocular gene therapy at the Mater hospital in Dublin. He was functionally blind for 12 years before receiving treatment for Leber congenital amaurosis, a rare inherited retinal dystrophy.
Stuart Haxell, a native of Sligo town, has experienced a significant improvement in his quality of life after undergoing groundbreaking ocular gene therapy at the Mater hospital in Dublin. Haxell, who had been functionally blind for the past 12 years, was able to read a letter after the treatment, a feat he never thought possible. 'I was shaking. I never considered there was anything that could help with my condition. I never thought this could happen.
All I could see before that was bright lights,' he recalled. This gene therapy, approved for use by the Health Service Executive in Ireland last year, holds the potential to restore retinal function and vision in patients suffering from inherited retinal dystrophies.Haxell's journey began with years of searching for a diagnosis. He underwent genetic testing in 2023, an initiative supported by a charity, which revealed he had a very rare condition called Leber congenital amaurosis. Fewer than 10 people in Ireland have this condition. 'I had no idea what my eye condition was, I just wanted a diagnosis. This came completely out of the blue,' he said. Following further tests, Haxell underwent two surgeries, a week apart, on each eye in November of last year. Professor David Keegan, a consultant retina specialist at the Mater hospital, and his team injected the gene therapy into his eyes.The selection process for Haxell was rigorous, but Prof. Keegan believes the results speak for themselves. 'It’s akin to plugging a television back in,' he explained. While the procedure is most effective when administered in childhood before significant retinal degeneration occurs, as Haxell's case demonstrates, benefits are possible and significant in adults. Hundreds of patients worldwide have already benefited from this treatment, making Haxell the first Irish person to receive it in Ireland. 'We had three children who received this treatment abroad while awaiting HSE approval. I think it’s really important that we have demonstrated the ability and capacity to treat patients with these conditions here,' Prof. Keegan said. 'That means that when drugs come down the line for other more common conditions, we don’t need to send them abroad.' Haxell was 'right at the edge of eligibility,' according to Prof. Keegan, but he emphasizes that the 'heart of the programme' is the comprehensive testing system, which empowers clinicians and patients to plan and manage conditions, ultimately improving their quality of life. Since his treatment, Haxell can read large letters, distinguish objects, and there is hope he will be able to read full sentences again. 'It’s like when I walk into a room, I might not know it’s a table in front of me, but I can see there’s a big object, that there’s something there,' he said. This newfound ability has profoundly empowered him. 'I feel much more comfortable when I come into a room. I feel more confident that there’s less of a chance I could fall or bang into something,' he shared. 'For the first time in over a decade, I can see the world around me. Being able to read again is something I never thought possible and my quality of life has been improved.'
GENETHEARPY VISIONRESTORATION INHERITEDRETINALDYSTROPHY LEBERCONGENITALAMAUROSIS IRISHPATIENT
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