UK girl, 6, regains sight after gene therapy for rare blindness

London: A 6-year-old girl in the UK can now see normally in both day and night after receiving a one-time gene therapy for a rare form of congenital blindness. Saffie Sandford from Stevenage was diagnosed at a young age with Leber’s Congenital Amaurosis (LCA), caused by a mutation in the RPE 65 gene. Both her parents unknowingly carried a copy of the faulty gene.

LCA typically affects children and causes an inability to see in low light, along with difficulty seeing in daylight. Because infants and toddlers cannot sit for traditional eyesight tests, diagnosis often comes late, even though the condition progresses from birth. It usually worsens until blindness sets in by early adulthood.

Saffie was referred from Moorfields Eye Hospital in Herefordshire to Great Ormond Street Hospital (GOSH) Children’s Trust in London, which had been developing a gene therapy for this condition.The treatment, called Luxturna, delivers a healthy copy of the RPE 65 gene directly into both eyes in a single dose. Saffie received the first dose in April 2025 and the second in September.

“Having the treatment has been life-changing, it’s like someone waved a magic wand and restored her sight in the dark,” said her mother, Lisa. “We’ve been able to take her trick or treating, and out to restaurants in the evening — something that was impossible before.”

Lisa added that Saffie’s peripheral sight in 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.”