30/04/2025
In a groundbreaking medical achievement, six-year-old Jace Broadbin, born blind due to a genetic condition called Leber congenital amaurosis (LCA), has regained partial vision through a world-first gene therapy. This condition, caused by mutations in the AIPL1 gene, leads to severe retinal dystrophy and legal blindness from birth.
Jace underwent the experimental treatment in 2020 at Great Ormond Street Hospital and Moorfields Eye Hospital in London. The procedure involved a 60-minute keyhole surgery in which healthy copies of the AIPL1 gene were injected into his retina.
Within a month, Jace began responding to light, and soon after, he could identify toys and navigate his environment with greater ease. This treatment was performed on one eye to assess its safety, while the untreated eye continued to deteriorate as expected.
This advancement, published in The Lancet, marks the first effective treatment for the most severe form of childhood blindness and offers hope for future gene therapy developments.
