The congenital eye disease treated was Leber Congenital Amaurosis type 4 (LCA4), caused by mutations in the AIPL1 gene. The normal product of this gene is the aryl hydrocarbon receptor-interacting protein-like 1, which is essential for stabilizing and folding photoreceptor proteins (especially PDE6) in retinal cells.

The treatment was performed at Great Ormond Street Hospital (GOSH) in collaboration with Moorfields Eye Hospital and UCL Institute of Ophthalmology. A total of four children received the therapy.

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Genetic therapy gives infants life-changing improvements in sight | UCL News

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