Mouse model provides hope to treat a rare form of congenital blindness

Leber congenital amaurosis (LCA) type nine is an autosomal recessive retinopathy leading to early childhood blindness caused by mutations of the NAD+ synthesis enzyme NMNAT1. In work lead by Dr. Yo Sasaki and published in the journal Elife, Needleman Center researchers demonstrated that loss of NMNAT1 leads to activation of the SARM1-mediated axon degeneration pathway in photoreceptors. Loss of SARM1, in turn, prevents photoreceptor degeneration and blindness in a mouse model of LCA, demonstrating SARM1’s potential as an exciting new therapeutic target for congenital retinopathies.