Massachusetts Eye and Ear researchers discover elusive gene that causes a form of blindness from birth
BOSTON (July 29, 2012) – Researchers from the Massachusetts Eye and Ear Infirmary, The Children's Hospital of Philadelphia, Loyola University Chicago Health Sciences Division and their collaborators have isolated an elusive human gene that causes a common form of Leber congenital amaurosis (LCA), a relatively rare but devastating form of early-onset blindness. The new LCA gene is called NMNAT1. Finding the specific gene mutated in patients with LCA is the first step towards developing sight-saving gene therapy.
LCA is an inherited retinal degenerative disease characterized ...

