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The findings deepen understanding of how mutations in the RPE65 enzyme cause retinal diseases, especially Leber congenital amaurosis, a devastating childhood blinding disease.

Trial participants have Leber congenital amaurosis type 10, caused by a mutated gene that the trial aimed to fix.

In previous studies, researchers have been able to treat a genetic form of blindness called Leber congenital amaurosis, by fixing a faulty gene that would otherwise cause photoreceptors to gradually degenerate.

The people in this study have Leber congenital amaurosis, caused by a gene mutation that keeps the body from making a protein needed to convert light into signals to the brain, which enables sight.

“Sometimes there’s a kind of stroke that can mimic retinal migraine called amaurosis fugax – which means a fleeting visual disturbance – and that’s micro clots passing through the blood vessels,” Munro explains.