Leber congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life.

[5][6][7][8] LCA symptoms typically begin in the first few months of life, most commonly with involuntary twitching of the eye (nystagmus).

Some affected individuals have cloudy eyes (cataracts), and irregularly shaped corneas (keratoconus).

The results of three early clinical trials were published in 2008 demonstrating the safety and efficacy of using adeno-associated virus to deliver gene therapy to restore vision in LCA patients.

[citation needed] On 19 December 2017, the U.S. Food and Drug Administration approved voretigene neparvovec-rzyl (Luxturna), an adeno-associated virus vector-based gene therapy for children and adults with biallelic RPE65 gene mutations responsible for retinal dystrophy, including Leber congenital amaurosis.

[15] Another recent trial from The OHSU Casey Eye Institute used CRISPR to treat LCA starting in 2020.

The experimental treatment consisted in editing a mutation of the CEP290 gene, which provides instructions to create a protein that is critical for sight.

[16] For those who cannot benefit from gene therapy, LCA treatment is supportive, and meant to facilitate living with visual impairment.