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Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.

Authors
  • Sheck, Leo1
  • Davies, Wayne I L2
  • Moradi, Phillip3
  • Robson, Anthony G3
  • Kumaran, Neruban1
  • Liasis, Alki C4
  • Webster, Andrew R3
  • Moore, Anthony T5
  • Michaelides, Michel6
  • 1 Moorfields Eye Hospital, London, United Kingdom. , (United Kingdom)
  • 2 UWA Oceans Institute, University of Western Australia, Crawley, Australia; School of Biological Sciences, University of Western Australia, Crawley, Australia; Lions Eye Institute, University of Western Australia, Crawley, Australia. , (Australia)
  • 3 Moorfields Eye Hospital, London, United Kingdom; University College London Institute of Ophthalmology, University College London, United Kingdom. , (United Kingdom)
  • 4 Great Ormond Street Hospital, London, United Kingdom. , (United Kingdom)
  • 5 Moorfields Eye Hospital, London, United Kingdom; University College London Institute of Ophthalmology, University College London, United Kingdom; Ophthalmology Department, School of Medicine, University of California San Francisco, San Francisco, California. , (United Kingdom)
  • 6 Moorfields Eye Hospital, London, United Kingdom; University College London Institute of Ophthalmology, University College London, United Kingdom. Electronic address: [email protected] , (United Kingdom)
Type
Published Article
Journal
Ophthalmology
Publication Date
Jun 01, 2018
Volume
125
Issue
6
Pages
894–903
Identifiers
DOI: 10.1016/j.ophtha.2017.12.013
PMID: 29398085
Source
Medline
License
Unknown

Abstract

Detailed analysis of the clinical phenotype of LCA-CEP290 in a large cohort confirms that there is a window of opportunity in childhood for therapeutic intervention based on relative structural preservation in the central cone-rich retina in a significant proportion of patients, with the majority harboring the deep intronic variant potentially tractable to several planned gene editing approaches.

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