OPHTHALMOLOGY
Ocular gene therapy breakthrough at Mater Hospital
An Irish patient has had his sight restored following a new gene therapy administered at the Mater Hospital, Dublin
March 3, 2025
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The Mater Misericordiae University Hospital, Dublin has successfully treated the first patient in Ireland with a ground-breaking ocular gene therapy. The gene therapy, Luxturna, received approval for reimbursement in Ireland last year, and has the potential to restore retinal function and vision in patients suffering from inherited retinal dystrophies.Stuart Haxell, a 31-year-old from Sligo, is functionally blind and has only been able to see a certain amount of light for over a decade. He received the first Luxturna treatment in Ireland in November at the Mater Hospital, under the care of Prof David Keegan, consultant ophthalmic surgeon.Just weeks after the procedure, Stuart is now able to read letters and words again, a recovery described by medical professionals as remarkable. This success marks a transformative development for the treatment of inherited ocular degeneration in Ireland.The gene therapy works by targeting genetic mutations that impair retinal function. It involves:
- Identifying patients with sufficient remaining retinal structure for treatment
- Performing a vitrectomy to remove the eye’s vitreous jelly
- Administering a subretinal injection that creates a temporary retinal detachment, allowing the viral vector to deliver the functional gene
- Enabling the retinal cells to produce the enzyme needed for vision restoration.
“It’s akin to plugging a television back in,” explains Prof Keegan. “The procedure is most effective when administered in childhood before significant retinal degeneration occurs, but as Stuart’s case demonstrates, benefits are not only possible, but significant in adults.”The introduction of this gene therapy at the Mater Hospital is the culmination of years of rigorous clinical research, specialised staff training, extensive safety protocols and critical funding support. The achievement was made possible through consultation with key stakeholders and organisations, including Fighting Blindness, Shabra Charity, Vision Ireland and the Mater Hospital Foundation.Inherited retinal dystrophies are very rare, with one patient eligible for treatment identified every two to five years. The team in the Mater is expecting to treat a second patient later this year.Stuart experienced significant improvements in central vision within two weeks, with further improvements expected over time. While his vision may not return to full capacity, in particular his peripheral vision, this advancement represents hope for the treatment of visual conditions previously deemed untreatable and non-preventable, Prof Keegan added.