Gene therapy for Leber’s Congenital Amaurosis due to LCA5 Mutations

Autosomal recessive mutations in Lebercilin (LCA5) are associated with severe, congenital blindness classified as Leber’s Congenital Amaurosis type 5 (LCA5). The lebercilin protein localizes to the junction between the outer and inner segments in photoreceptors where it appears to play a role in intraflagellar  transport or other ciliary functions. Because non-invasive imaging shows preservation in some of the cells in the central macula of patients with LCA5, gene augmentation therapy may be effective at halting further loss of vision if administered early in life.