Child's sight improves following gene therapy for blindness

A child born with a hereditary retinal disorder has had her sight restored by an NHS-funded gene therapy.

The six-year-old girl has a rare genetic condition called Leber congenital amaurosis (LCA), which affects one in 80,000 people in the UK. When two affected copies of the RPE65 gene are inherited, retinal cells in the eye are unable to make a protein essential for normal eyesight. Affected people experience progressive vision loss that begins in infancy, leading to near-complete blindness in early adulthood. The child received the gene therapy named Luxturna, which has been available through the NHS since 2020 (see BioNews 1036 and 1014).

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

The child had been wearing glasses for shortsightedness since the age of two. Her parents noticed she was struggling to see in the dark three years later, and an LCA diagnosis followed. She was referred to Great Ormond Street Hospital (GOSH), London, where she received the gene therapy just before turning six last year. This treatment consists of a one-off eye injection which delivers a working copy of the RPE65 gene into retinal cells.

According to her mother, the child now has better night vision as well as peripheral sight in daylight. She can more easily spot hazards, enjoys normal childhood activities, and has improved at school.

Researchers at GOSH have investigated the effects of this therapy by following fourteen children aged fifteen months to twelve years, who were treated with Luxturna at GOSH between 2020 and 2023 due to RPE65-related retinal disease. Results published in JAMA Ophthalmology show that the gene therapy improved visual pathway function in most patients. The youngest children, who were treated during a critical period of visual development, showed greater improvement in visual acuity compared to their older peers.

Robert Henderson, a consultant ophthalmic surgeon at GOSH who led the study, 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.'

The team that pioneered the development of Luxturna, which was the first FDA-approved gene therapy for an inherited disease, recently received one of the 2026 Breakthrough Prizes in Life Sciences (see BioNews 1336). The award went to Professor Jean Bennett, Professor Albert Maguire and Professor Katherine High at the University of Pennsylvania in Philadelphia.