Girl, 6, has sight restored through gene therapy

A six-year-old girl from Stevenage, Saffie Sandford, has regained her vision after undergoing gene therapy, a breakthrough that her mother describes as “like someone waved a magic wand and restored her sight in the dark.” The treatment, known as Luxturna, was administered at Great Ormond Street Hospital (GOSH) following tests at Moorfields Eye Hospital in London. Saffie suffers from Leber’s Congenital Amaurosis (LCA), a rare inherited condition that prevents eye cells from producing a vital protein for normal vision.

“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,” said Lisa, Saffie’s mother. “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.”

The therapy, which involves injecting a healthy version of the gene into each eye, was first applied to Saffie in April 2025 for one eye and again in September for the other. Before the treatment, her family had been informed she might lose her sight entirely by the age of 30. Since two, Saffie had worn glasses to correct short-sightedness, but her vision worsened by five when she was diagnosed with LCA. Children with the condition often experience poor daylight vision and total darkness in low-light environments.

Research highlights therapy’s impact on visual development

Scientists at GOSH and University College London conducted a study tracking 15 children, aged 15 months to 12 years, treated with Luxturna between 2020 and 2023. The results showed that younger patients had more significant improvements, as the treatment was delivered during a critical phase of brain development. Older children, however, demonstrated less pronounced changes in their ability to see clearly. The team also used pattern visual evoked potentials, a non-invasive test measuring signal transmission from the retina to the visual cortex.

“For the first time, we’ve been able to show objectively that gene therapy can strengthen the visual pathways in babies and young children with this rare eye condition,” explained Rob Henderson, a consultant ophthalmologist at GOSH. “Even small gains in sight can make a profound difference for families. This research underscores the potential of gene therapy and the need for age-specific outcome measures.”

The therapy is not a cure but has been shown to enhance vision and reinforce neural connections in affected individuals. Saffie’s mother noted that the treatment has transformed her life, with the child now thriving and showing remarkable progress in both central and peripheral vision. The NHS’s involvement in providing this pioneering treatment has offered hope to many families facing similar challenges. For more stories from Beds, Herts and Bucks, contact the BBC team or follow their coverage on BBC Sounds, Facebook, Instagram, and X.