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Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype,and Natural History in Preparation for Trials of Novel Therapies |
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| Authors: | Leo Sheck Wayne I.L. Davies Phillip Moradi Anthony G. Robson Neruban Kumaran Alki C. Liasis Andrew R. Webster Anthony T. Moore Michel Michaelides |
| Affiliation: | 1. Moorfields Eye Hospital, London, United Kingdom;2. UWA Oceans Institute, University of Western Australia, Crawley, Australia;3. School of Biological Sciences, University of Western Australia, Crawley, Australia;4. Lions Eye Institute, University of Western Australia, Crawley, Australia;5. University College London Institute of Ophthalmology, University College London, United Kingdom;6. Great Ormond Street Hospital, London, United Kingdom;7. Ophthalmology Department, School of Medicine, University of California San Francisco, San Francisco, California |
| Abstract: | |
| Keywords: | CFP color fundus photography ERG electroretinogram EOSRD early-onset severe retinal dystrophy FAF fundus autofluorescence LCA Leber congenital amaurosis PERG pattern electroretinogram SD standard deviation VA visual acuity |
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