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Article

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

Investigative ophthalmology & visual science - 1 Feb 2017

Aguirre Geoffrey K, Butt Omar H, Datta Ritobrato, Roman Alejandro J, Sumaroka Alexander, Schwartz Sharon B, Cideciyan Artur V, Jacobson Samuel G

Abstract excerpt

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 (ages 20-46) were studied with optical coherence tomography of the retina and multimodal magnetic resonance imaging...

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Identifiers

PMID: 28403437
DOI: 10.1167/iovs.16-20413
PMCID: PMC5308769

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