Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene

PURPOSE: To examine how severe congenital blindness resulting from mutations of the GUCY2D gene alters brain structure and function, and to relate these findings to the notable preservation of retinal architecture in this form of Leber congenital amaurosis (LCA). METHODS: Six GUCY2D-LCA patients (ag...

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Publicado en:Invest Ophthalmol Vis Sci
Main Authors: Aguirre, Geoffrey K., Butt, Omar H., Datta, Ritobrato, Roman, Alejandro J., Sumaroka, Alexander, Schwartz, Sharon B., Cideciyan, Artur V., Jacobson, Samuel G.
Formato: Artigo
Idioma:Inglês
Publicado: The Association for Research in Vision and Ophthalmology 2017
Assuntos:
Visual Neuroscience
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5308769/
https://ncbi.nlm.nih.gov/pubmed/28403437
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.16-20413
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