Title |
Natural History of Cone Disease in the Murine Model of Leber Congenital Amaurosis Due to CEP290 Mutation: Determining the Timing and Expectation of Therapy
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Published in |
PLOS ONE, March 2014
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DOI | 10.1371/journal.pone.0092928 |
Pubmed ID | |
Authors |
Shannon E. Boye, Wei-Chieh Huang, Alejandro J. Roman, Alexander Sumaroka, Sanford L. Boye, Renee C. Ryals, Melani B. Olivares, Qing Ruan, Budd A. Tucker, Edwin M. Stone, Anand Swaroop, Artur V. Cideciyan, William W. Hauswirth, Samuel G. Jacobson |
Abstract |
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 structure and function in this murine model to permit design of pre-clinical proof-of-concept studies and allow progress to be made toward human therapy. Analyses of retinal structure and visual function in CEP290-LCA patients were also performed for comparison with the results in the model. |
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