Article
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.
Human mutation - 1 Nov 2007
Cideciyan Artur V, Aleman Tomas S, Jacobson Samuel G, Khanna Hemant, Sumaroka Alexander, Aguirre Geoffrey K, Schwartz Sharon B, Windsor Elizabeth A M, He Shirley, Chang Bo, Stone Edwin M, Swaroop Anand
Abstract excerpt
Mutations in the centrosomal-ciliary gene CEP290/NPHP6 are associated with Joubert syndrome and are the most common cause of the childhood recessive blindness known as Leber congenital amaurosis (LCA). An in-frame deletion in Cep290 shows rapid degeneration in the rod-rich mouse retina. To explore the mechanisms of the human retinal disease, we studied CEP290-LCA in patients of different ages (7-48 years) and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.