One-off gene therapy gives girl, 6, her sight back

The mother of a six-year-old girl who had life-changing eye gene therapy says it is "like someone waved a magic wand and restored her sight in the dark".

Saffie Sandford, from Stevenage, has the rare inherited condition Leber's Congenital Amaurosis (LCA), which prevents cells in the eye from making a specific protein needed for normal vision.

After tests were carried out at Moorfields Eye Hospital in London, she was treated at Great Ormond Street Hospital (GOSH) and underwent Luxturna therapy.

Her mother Lisa said the family had been told Saffie would have been "blind by the age of 30" without treatment.

GOSH said the treatment had been the first of its kind for one of the genetic causes of LCA, with Saffie having one procedure on one eye in April 2025 and the other in September.

The one-off therapy contains a healthy copy of the gene, which is injected directly into each eye.

From the age of two, Saffie has worn glasses after being told she was short-sighted. At five, she was diagnosed with LCA when her parents noticed she was struggling to see in the dark.

Babies and children with the condition have low vision in daylight and no vision in low light - and can lose their sight completely in adulthood.

"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 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."

She added: "Having the gene treatment has been life-changing, it's like someone waved a magic wand and restored her sight in the dark.

"She's thriving and you wouldn't know she had the condition just by looking at her. The results have been incredible."

Saffie's peripheral sight in the daylight has also improved.

Scientists at GOSH and University College London said research showed Luxturna could improve sight and strengthen visual pathways at a critical stage of brain development - but it was not a cure.

The team followed 15 children, aged from 15 months to 12 years, who were treated with the gene therapy at GOSH between 2020 and 2023.

Changes in the ability to see clearly and correctly were limited in older children, while the youngest children had more improvement as the treatment was delivered during a critical period of visual development.

The team also used pattern visual evoked potentials – a painless test that measured how well signals travelled from the retina to the visual cortex.

Rob Henderson, consultant ophthalmologist at GOSH, said: "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.

"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.