Gene Therapy Restores Sight for 6-Year-Old Girl with Rare Eye Condition

Six-year-old Saffie Sandford's sight was restored through pioneering gene therapy for Leber's Congenital Amaurosis, offering hope for children with inherited retinal diseases.

Life-Changing Gene Therapy Restores Vision

The mother of six-year-old Saffie Sandford, who underwent groundbreaking gene therapy for a rare inherited eye condition, described the treatment as "like someone waved a magic wand and restored her sight in the dark."

Saffie, from Stevenage, was diagnosed with Leber's Congenital Amaurosis (LCA), a rare genetic disorder that prevents the eye cells from producing a protein essential for normal vision.

Following diagnostic tests at Moorfields Eye Hospital in London, Saffie received the Luxturna gene therapy at Great Ormond Street Hospital (GOSH). Her mother, Lisa, shared that without treatment, Saffie was expected to be blind by age 30.

Family handout Three people all together smiling and looking at the camera. The young girl in the middle is holding a toy and has on a pink and brown leopard print coat, with purple glasses on. A woman is to the left, with long dark hair and a man to the right with a black hat on, and black coat with a furry hood. — Lisa, Saffie's mother, said her diagnosis had come as a huge shock

Details of the Treatment

GOSH reported that this treatment was the first of its kind targeting one of the genetic causes of LCA. Saffie underwent a one-off gene therapy procedure on one eye in April 2025 and the other eye in September of the same year.

The therapy involves injecting a healthy copy of the gene directly into each eye, aiming to restore the function of retinal cells.

Family handout Saffie, wearing purple glasses, holding a paint brush in one hand. She has on purple glasses and has long dark hair. She is sat by a table in a kitchen, with cabinets all around her. — Saffie had to have two procedures on each eye, several months apart

Early Signs and Diagnosis

Saffie began wearing glasses at age two after being diagnosed with short-sightedness. At five, her parents noticed she struggled to see in low light, leading to her diagnosis of LCA.

Children with LCA typically experience low vision in daylight and no vision in dim conditions, often resulting in complete blindness in adulthood.

Family handout A girl, sucking a red and white stripped straw, in a drink. She has one hand up, and is wearing purple glasses and a white T-shirt. She is in a room that has bright colours on the wall behind her. — Saffie has worn glasses since the age of two and was diagnosed with LCA at five

Family's Experience and Reaction

Lisa expressed the shock the family experienced upon learning of Saffie's diagnosis, as neither she nor her husband Tam were aware they were carriers of the gene.

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"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.

She described the journey as an emotional rollercoaster but expressed relief and gratitude upon discovering that treatment was available through the NHS.

"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."

Lisa further emphasized the transformative impact of the gene therapy on Saffie's vision.

"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."

In addition to improved night vision, Saffie's peripheral vision in daylight has also shown enhancement.

Scientific Research and Findings

Researchers at GOSH and University College London have studied the effects of Luxturna, noting that while it is not a cure, the therapy can improve sight and strengthen visual pathways during critical stages of brain development.

The study followed 15 children aged between 15 months and 12 years who received gene therapy at GOSH from 2020 to 2023.

Results indicated that younger children experienced more significant improvements, as the treatment was administered during a crucial period of visual development. Older children showed limited changes in visual clarity and accuracy.

The research team employed pattern visual evoked potentials, a non-invasive test measuring signal transmission from the retina to the visual cortex, to objectively assess visual pathway function.

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