STEVENAGE — Saffie Sandford, a girl from Stevenage, received Luxturna gene therapy at Great Ormond Street Hospital in two procedures, one on each eye, in April and September 2025 to treat her Leber's Congenital Amaurosis. The one-off therapy, which contains a healthy copy of the affected gene, is injected directly into each eye.

Leber's Congenital Amaurosis is a rare inherited condition that prevents cells in the eye from producing a protein needed for normal vision. Babies and children with the condition have low vision in daylight, no vision in low light, and can lose their sight completely in adulthood. Luxturna is not a cure for the condition.

Saffie was diagnosed as short-sighted at age two and began wearing glasses. At five, she was diagnosed with Leber's Congenital Amaurosis after her parents noticed she was struggling to see in low light. Her mother, Lisa Sandford, and father Tam are carriers of the genetic variant that causes the condition. Without the treatment, Saffie would have been blind by the age of 30.

"Saffie's diagnosis came as a huge shock to us as we'd never heard of the condition or knew me and her dad Tam were carriers," Lisa Sandford said. "It was such a rollercoaster of a journey, but we were so relieved and grateful when we heard there was a treatment available on the NHS."

Before treatment, Saffie could not take part in low-light evening activities such as trick-or-treating. Sandford said the family was told that without the treatment, Saffie would be blind by the age of 30. "Having the gene treatment has been life-changing, it's like someone waved a magic wand and restored her sight in the dark," Sandford said. "We know it might not last forever, but we feel fortunate every day that she has been given this chance."

Saffie's peripheral sight in daylight also improved after the therapy. Researchers at Great Ormond Street Hospital and University College London followed 15 children aged 15 months to 12 years who received Luxturna gene therapy between 2020 and 2023, using pattern visual evoked potentials, a painless test that measures how well signals travel from the retina to the visual cortex. Improvements in vision ability were greater in younger children compared with older ones, reflecting a critical period of visual development.

"For the first time, we've been able to show objectively that gene therapy can strengthen the visual pathways in babies and young children who are living with this rare eye condition," consultant ophthalmologist Rob Henderson said. "This research highlights not only the potential of gene therapy to change what's possible for children with inherited retinal disease, but also the importance of developing age-appropriate outcome measures."