In today’s episode, guest surgeon Dr. Aaron Nagiel demonstrates the administration of voretigene neparvovec (Luxturna™). Luxturna™ is the first gene therapy approved by the FDA for the treatment of a genetic disease and is indicated for the treatment of biallelic RPE65 inherited retinal dystrophy. It utilizes an adeno-associated virus vector (AAV2) to deliver the RPE65 gene to RPE cells. RPE65 is responsible for regeneration of 11-cis retinol in the visual cycle. Mutations in both copies of the RPE65 gene can cause diseases like Leber Congential Amaurosis (LCA) and Retinitis Pigmentosa (RP), however there are multiple genes that can causes those diseases and this therapy is only used for biallelic mutations in RPE65.
In this case, a 22 month old child with LCA and genetically confirmed biallelic RPE65 mutations is undergoing subretinal delivery of Luxturna™. Thank you Dr. Nagiel for sharing this case!
