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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Dettagli Bibliografici
Pubblicato in:Invest Ophthalmol Vis Sci
Autori principali: Aguirre, Geoffrey K., Butt, Omar H., Datta, Ritobrato, Roman, Alejandro J., Sumaroka, Alexander, Schwartz, Sharon B., Cideciyan, Artur V., Jacobson, Samuel G.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Association for Research in Vision and Ophthalmology 2017
Soggetti:
Visual Neuroscience
Accesso online: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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