Six-year-old Saffie Sandford faced losing her vision after being diagnosed with the rare eye condition Leber’s Congenital Amaurosis (LCA) – but has been given life-changing therapy on the NHS
A brave six-year-old girl has had her sight restored thanks to ‘incredible’ life-changing eye gene therapy on the NHS.
Little Saffie Sandford, from Stevenage in Hertfordshire, has the rare inherited condition Leber’s Congenital Amaurosis (LCA), which prevents cells in the eye from making a type of protein needed for normal vision.
Babies and children with the condition have low vision in daylight, and no vision at all in low light. They can lose their sight completely in adulthood.
Saffie, a “thriving” youngster who loves Spider-Man, was diagnosed with LCA when she was five after her parents noticed she was struggling to see in the dark.
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Moorfields Eye Hospital in London carried out tests to diagnose Saffie and then she was transferred to Great Ormond Street Hospital to have the eye gene therapy, Luxturna.
This one-off treatment is the first of its kind for one of the genetic causes of LCA , and injects a healthy copy of the gene directly into the eye.
Saffie’s mother, Lisa, said: “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.
“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 for Saffie.
“We were told that without the treatment, she would be blind by the age of 30. Before she had the treatment, her condition was really life-limiting. She was blind in the dark, which made daily activities challenging.”
Saffie underwent eye gene therapy in her first eye in April 2025 and in her second eye in September. She already wore glasses, having been diagnosed as short-sighted when she was two.
“Having the gene treatment has been life-changing, it’s like someone waved a magic wand and restored her sight in the dark,” her mother 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 can also take part in normal activities that a six-year-old enjoys like playing on a climbing frame.
“She’s thriving and you wouldn’t know she had the condition just by looking at her. The results have been incredible, and we are eternally grateful that our little girl has been given her sight back. We know it might not last forever, but we feel fortunate every day that she has been given this chance.”
Researchers at Gosh and University College London (UCL) have recently published research showing that Luxturna can improve sight and strengthen visual pathways at a critical stage of brain development.
The team followed 15 children who were treated with the gene therapy at Gosh between 2020 and 2023 and showed it can improve visual pathway function in young children with RPE65-related retinal disease.
Doctors treated babies as young as 15 months old up to the age of 12 for the study. While changes in the ability to see clearly and correctly were limited in older children, the youngest children in the study had more improvement owing to treatment being delivered during a critical period of visual development.
The team also used pattern visual evoked potentials (VEPs) – a painless test that measures how well signals travel from the retina to the visual cortex. Traditional vision tests can be difficult for very young children, or those with neurodevelopmental conditions.
While the researchers do not describe Luxturna as a ‘cure’ for the condition, they are hopeful for good long-term results, and will gather long-term data on the drug.
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.
“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.
“Pattern VEPs could help set a new standard for how future paediatric gene therapy trials are assessed around the world.”
