Girl’s sight restored after ‘life-changing’ gene therapy

Saffie Sandford, from Stevenage in Hertfordshire, has the rare condition Leber’s Congenital Amaurosis (LCA), a mutation in the RPE 65 gene, that causes retinal dystrophy.

The condition prevents cells in the eye from making a specific protein that is essential for normal vision. Babies born with the condition have poor sight from infancy which further deteriorates, with many ultimately losing their vision completely in adulthood. Babies and children with the condition have low vision in daylight and no vision in low light.

Saffie’s story
Spiderman-loving Saffie was diagnosed with LCA when she was five and a half years old after her parents noticed she was struggling to see in the dark. Saffie already wore glasses and was diagnosed as short-sighted when she was two and a half.

After undergoing tests at Moorfields Eye Hospital, she was transferred to GOSH to have the eye gene therapy, Luxturna, which is the first of its kind for one of the genetic causes of LCA.

Mum 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 had the eye gene therapy in her first eye in April 2025 just before her sixth birthday, and in her second eye in September 2025.

“Having the treatment has been life-changing, it’s like someone waved a magic wand and restored her sight in the dark. 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.” 

Improving the visual pathway
Researchers at UCL Great Ormond Street Institute of Child Health and GOSH have published new evidence showing that treating younger children, like Saffie, who have a rare inherited blindness with the gene therapy, Luxturna (Voretigene Neparvovec), can improve sight and strengthen visual pathways at a critical stage of brain development.

In the largest UK study of its kind, experts followed 15 children who were treated with the gene therapy at GOSH between 2020 and 2023. The promising results have been published in JAMA Ophthalmology.

Clinicians treated babies as young as 15 months old up to children aged 12. The one-off gene therapy contains a healthy copy of the gene which is directly injected into the eye.

Results showed that the gene therapy can improve visual pathway function in young children with RPE65-related retinal disease.

Traditional vision tests can be difficult for very young children or those with neurodevelopmental conditions, the research team used pattern visual evoked potentials (VEPs) – a painless, non‑invasive electrophysiology test that measures how well signals travel from the retina to the visual cortex.

Seven out of 10 children who completed pattern VEP testing showed clinically meaningful improvements after treatment, including stronger visual signal responses and faster processing times.

Many parents reported noticeable improvements in their child’s ability to see or navigate in low‑light conditions, which was challenging for them before the treatment.

While changes in traditional visual acuity were limited in older children, the youngest children - treated during a critical period of visual development - showed more improvement 

This study also provides some of the first systematic evidence that pattern VEPs offer a reliable and practical tool for assessing treatment response in children receiving retinal gene therapy – especially those too young to complete traditional vision tests.

Dr Rob Henderson (UCL Great Ormond Street Institute of Child Health and a 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.”

Saffie’s mum Lisa added: “We are happier than we can describe that we went ahead and put our trust in GOSH and in Rob. 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.”

Links

• JAMA Ophthalmology paper
• GOSH story
• Dr Rob Henderson’s academic profile
• UCL Great Ormond Street Institute of Child Health
• UCL Population Health Sciences

Image

• Top: Saffie and her parents. Middle: Saffie in a flower hat. Credit: Saffie’s family.

Media contact

Nick Hodgson

E: nick.hodgson [at] ucl.ac.uk