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Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies
PURPOSE: To investigate and describe in detail the demographics, functional and anatomic characteristics, and clinical course of Leber congenital amaurosis (LCA) associated with mutations in the CEP290 gene (LCA-CEP290) in a large cohort of adults and children. DESIGN: Retrospective case series. PAR...
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| Wydane w: | Ophthalmology |
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| Główni autorzy: | , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Elsevier
2018
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5974693/ https://ncbi.nlm.nih.gov/pubmed/29398085 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ophtha.2017.12.013 |
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