In a pioneering medical advancement, doctors in the United Kingdom have successfully restored sight in children born with a rare genetic eye condition known as Leber congenital amaurosis (LCA). Specialists from Moorfields Eye Hospital and University College London (UCL) selected four children, aged between one and two years, for this transformative gene therapy treatment in 2020. The therapy, performed at London's Great Ormond Street Hospital, involved a 60-minute keyhole surgery where healthy copies of the AIPL1 gene were injected into the retina.
The children, who were born with LCA due to a defect in the AIPL1 gene, experienced severe retinal dystrophy leading to significant vision loss. Before the treatment, these children could only distinguish between light and dark, with their minimal sight expected to deteriorate further within a few years. Post-treatment, the children demonstrated remarkable improvements in vision, with some able to see shapes, find toys, recognize faces, and even read and write.
This breakthrough treatment, developed by UCL under a special license from the Medicines and Healthcare Regulatory Agency (MHRA) and supported by the gene therapy company MeiraGTx, marks the first successful intervention worldwide to cure blindness in children born with LCA. The results, followed up over five years and published in the Lancet journal, provide hope for ongoing advancements in genetic therapies.
One of the children, Jace, showcased extraordinary progress. His parents expressed their amazement at his newfound abilities. DJ, Jace's parent, shared insights on his pre-surgery condition:
“Pre-surgery, at around two years old, you could have held up any object, even a couple of inches away from Jace’s face, and he would not be able to track it.”
“It didn’t matter how bright it was, what colour it was, what shape it was.”
Jace’s parents described the transformation as "pretty amazing," noting that he can now pick up tiny objects off the floor and identify toys from a distance. Brendan, another parent, recalled witnessing Jace's first reaction to light within a month after surgery:
“He kind of pulled himself back. It wasn’t just even an eye shut, it was more of a physical reaction.”
“And 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.”
Prof James Bainbridge emphasized the unprecedented success of the intervention:
“Some children are even able to read and write following the intervention which is something that one would absolutely not expect in this condition, untreated.”
The successful treatment has now expanded to include seven more children treated at Evelina London Children's Hospital by specialists from St Thomas' Hospital, Great Ormond Street, and Moorfields. These promising results have opened new avenues for treating genetic disorders causing childhood blindness.
