- Saffie Sandford, 6, from Stevenage, can see again in low light after gene therapy for Leber’s Congenital Amaurosis, a rare inherited blindness caused by a fault in the RPE65 gene.
- The treatment, Luxturna, delivers a healthy copy of the gene into both eyes in a single dose; Saffie was treated at Great Ormond Street Hospital in 2025.
- In a GOSH study, 7 of 10 children given the therapy showed clinically meaningful improvements in vision.
Born sliding toward blindness, six-year-old Saffie Sandford can now see in the dark – after a single dose of gene therapy her mum says worked “like someone waved a magic wand.”
Saffie, from Stevenage, was diagnosed as a young child with Leber’s Congenital Amaurosis (LCA), caused by a mutation in the RPE65 gene that both her parents unknowingly carried.
LCA robs children of sight in low light and makes daylight hard to navigate, progressing from birth until blindness sets in by early adulthood. Because infants can’t sit for standard eye tests, it is often caught late.
Great Ormond Street Hospital in London had been developing a therapy for exactly this condition. Called Luxturna, it delivers a healthy copy of the RPE65 gene straight into both eyes in a single dose. Saffie had her first treatment in April 2025 and the second that September.
Her mother, Lisa, describes a different child since.
“Having the treatment has been life-changing, it’s like someone waved a magic wand and restored her sight in the dark,” Lisa said. “We’ve been able to take her trick or treating, and out to restaurants in the evening – something that was impossible before.”
“Her peripheral sight in the daylight has also improved. She’s now able to see hazards and has improved at school. She’s thriving and you wouldn’t know she had the condition just by looking at her.”
Saffie is not a one-off. GOSH has published a study on Luxturna in children from as young as 15 months to age 12, finding that 7 out of 10 showed clinically meaningful improvements in vision, measured partly by a new test that reads the electrical signals the retina sends the brain.
“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,” said Rob Henderson, a consultant ophthalmologist at GOSH.
“For many of the families we work with, even small improvements in their child’s ability to see the world around them make a profound difference.”
