Gene therapy for Leber’s Congenital Amaurosis due to RDH12 Mutations

Leber’s Congenital Amaurosis (LCA) is a group of rare inherited retinal dystrophies that are symptomatic in infancy. Whatever (poor) vision that is present in early childhood progressively deteriorates due to the degenerative component of this disease. One form of LCA is due to mutations in a gene involved in the retinoid (vitamin A) cycle, retinal dehydrogenase (RDH)12. RDH12 is normally expressed in photoreceptors. Delivery of wildtype RDH12 to photoreceptors through gene therapy techniques may be effective at reversing or halting loss of vision in this condition.