BY THE OPTIMIST DAILY EDITORIAL TEAM

Doctors in London have successfully restored sight in children born with a rare form of blindness, using a pioneering gene therapy that marks a major breakthrough in treating inherited eye disorders. Four children, previously diagnosed as legally blind due to a genetic mutation, can now see shapes, recognize their parents’ faces, and even read and write following the innovative treatment.

A medical first for childhood blindness

The children suffered from Leber congenital amaurosis (LCA), a severe retinal dystrophy caused by a defect in the AIPL1 gene. According to Prof James Bainbridge, consultant retinal surgeon at Moorfields Eye Hospital and professor of retinal studies at the UCL Institute of Ophthalmology, children born with this condition can typically only distinguish between light and dark, and even that limited vision deteriorates over time.

In an extraordinary medical first, doctors injected healthy copies of the AIPL1 gene directly into the retina using keyhole surgery, a procedure that took just 60 minutes. “The outcomes for these children are hugely impressive and show the power of gene therapy to change lives,” said Prof Michel Michaelides, a consultant retinal specialist at Moorfields and professor of ophthalmology at UCLI. “We have, for the first time, an effective treatment for the most severe form of childhood blindness, and a potential paradigm shift to treatment at the earliest stages of the disease.”

The road to sight

The groundbreaking procedure was performed at London’s Great Ormond Street Hospital on four children, aged one to two, from the United States, Turkey, and Tunisia. Healthy copies of the AIPL1 gene were packaged inside a harmless virus and delivered into the light-sensitive layer at the back of the eye. “This gene is critical for the function of photoreceptors, which are the cells that allow us to see,” explained Michaelides.

To ensure safety, the therapy was administered in only one eye per child, with doctors monitoring their progress over five years. The results, published in The Lancet, revealed remarkable improvements. “Some children are even able to read and write following the intervention, which is something that one would absolutely not expect in this condition if left untreated,” Bainbridge noted.

A life-changing transformation

For Jace, one of the young patients, the impact was nothing short of miraculous. His parents, Brendan and DJ, traveled from Connecticut to London in 2020, hoping for a chance to improve their son’s vision. Before the procedure, “you could have held up any object, even a couple of inches from Jace’s face, and he would not be able to track it,” DJ recalled. “It didn’t matter how bright it was, what color it was, what shape it was.”

Post-surgery, the changes were immediate. Brendan shared that within a month, the difference was noticeable. One day, sunlight came through the window, and Jace physically reacted—he pulled back, which had never happened before. “I remember welling up and getting really emotional because that was the first time that Jace ever had any reaction to any sort of light stimulus or anything of the sort. From there, it’s been pretty amazing.” 

Now six years old, Jace is thriving, and Brendan adds: “We get calls and notes home from school that he’s stealing phones out of teachers’ back pockets, which is hysterical to us.”

A future for gene therapy in vision restoration

This breakthrough treatment was developed at UCL under a special license from the UK’s Medicines and Healthcare Products Regulatory Agency (MHRA) and backed by the gene therapy company MeiraGTx. Encouraged by the success of the first four patients, doctors have since treated an additional seven children at Evelina London Children’s Hospital in collaboration with specialists from St Thomas’ Hospital, Great Ormond Street, and Moorfields.

The results offer a promising future for children with inherited blindness. As research continues, experts believe this gene therapy could pave the way for treating other genetic eye conditions, potentially restoring sight for thousands of children worldwide.

Source study: The Lancet—Gene therapy in children with AIPL1-associated severe retinal dystrophy: an open-label, first-in-human interventional study