Article
Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy.
PloS one - 1 Jan 2014
Boye Shannon E, Huang Wei-Chieh, Roman Alejandro J, Sumaroka Alexander, Boye Sanford L, Ryals Renee C, Olivares Melani B, Ruan Qing, Tucker Budd A, Stone Edwin M, Swaroop Anand, Cideciyan Artur V, Hauswirth William W, Jacobson Samuel G
Abstract excerpt
BACKGROUND: Mutations in the CEP290 (cilia-centrosomal protein 290 kDa) gene in Leber congenital amaurosis (LCA) cause early onset visual loss but retained cone photoreceptors in the fovea, which is the potential therapeutic target. A cone-only mouse model carrying a Cep290 gene mutation, rd16;Nrl-/-, was engineered to mimic the human disease. In the current study, we determined the natural history of retinal...
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