Author(s) :

Karthik Saripalli.

Volume/Issue :

Abstract :

Leber Congenital Amaurosis (LCA) is an early-onset genetic disease that causes severe vision loss beginning in childhood. This disease arises from biallelic mutations in genes that program photoreceptor function, the visual cycle, or phototransduction. Among more than 25 genes associated with LCA, RPE65, CEP290, and GUCY2D account for the largest number of LCA cases, which makes them more amenable to therapeutic development. To treat this disease, gene therapy treatments emerged as a promising solution because they target genetic mutations rather than just the symptoms, and currently include Luxturna as the only FDA-approved treatment. Beyond approved therapies, AAV and CRISPRCas9- based genomic editing strategies are being evaluated in clinical trials. This paper will analyze FDAapproved treatments such as Luxturna, as well as ongoing clinical trials aimed at achieving long-term efficacy, while highlighting that restorative potential might be limited by the amount of photoreceptors, genotype and age.