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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Detalles Bibliográficos
Autores principales: Aguirre, Geoffrey K., Butt, Omar H., Datta, Ritobrato, Roman, Alejandro J., Sumaroka, Alexander, Schwartz, Sharon B., Cideciyan, Artur V., Jacobson, Samuel G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2017
Materias:
Visual Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5308769/
https://www.ncbi.nlm.nih.gov/pubmed/28403437
http://dx.doi.org/10.1167/iovs.16-20413

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