Deep Phenotyping of PDE6C-Associated Achromatopsia

PURPOSE: To perform deep phenotyping of subjects with PDE6C achromatopsia and examine disease natural history. METHODS: Eight subjects with disease-causing variants in PDE6C were assessed in detail, including clinical phenotype, best-corrected visual acuity, fundus autofluorescence, and optical cohe...

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Publicat a:Invest Ophthalmol Vis Sci
Autors principals: Georgiou, Michalis, Robson, Anthony G., Singh, Navjit, Pontikos, Nikolas, Kane, Thomas, Hirji, Nashila, Ripamonti, Caterina, Rotsos, Tryfon, Dubra, Alfredo, Kalitzeos, Angelos, Webster, Andrew R., Carroll, Joseph, Michaelides, Michel
Format: Artigo
Idioma:Inglês
Publicat: The Association for Research in Vision and Ophthalmology 2019
Matèries:
Genetics
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6905659/
https://ncbi.nlm.nih.gov/pubmed/31826238
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.19-27761
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