Gene therapy works by replacing the defective mutated gene in the affected cells with a normal healthy copy, primarily in inherited retinal disorders.

LCA/EOSRD form part of a spectrum of inherited retinal dystrophies that cause severe visual loss at an early age. There is now an approved retinal gene therapy called Luxturna for patients with RPE65 mutations.

LCA describes a group of inherited retinal conditions that cause severe sight impairment or blindness from birth. There is now an approved treatment called Luxturna for patients with RPE65 mutations.

Mutations in the RPE65 can cause either leber congenital amaurosis or retinitis pigmentosa. Night blindness is one of the earliest symptoms but patients tend to suffer central visual loss later. Gene therapy (Luxturna) is now approved in the UK for patients with mutations in the RPE65 gene.

Treatment centres in the UK currently offering Luxturna treatment under the NHS.