New gene identified in Leber congenital amaurosis

Researchers have in the past identified mutuations in 8 different genes as being associated with Leber congenital amaurosis (LCA), a disorder that causes children to be blind at birth. Scientists at McGill University in Canada have found yet another gene mutuation, on the CEP290 gene, was present in 21 percent of the individuals with LCA that they examined. This makes it one of the most common causes of LCA identified so far. This discovery will make it easier to test blind children to see if they have LCA and adds another pathway for possible treatment of the disorder. The research, funded by the Foundation Fighting Blindness Canada, was published in the September 2006 issue of The American Journal of Human Genetics.