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Article

Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology of Visual System in Neonates.

Investigative ophthalmology & visual science - 1 Oct 2017

Liang Chen, Kerr Alicia, Qiu Yangfengzhong, Cristofoli Francesca, Van Esch Hilde, Fox Michael A, Mukherjee Konark

Abstract excerpt

Purpose: Optic nerve hypoplasia (ONH) is the most common cause of childhood congenital blindness in developed nations, yet the fundamental pathobiology of ONH remains unknown. The objective of this study was to employ a 'face validated' murine model to determine the timing of onset and the pathologic characteristics of ONH. Methods: Based on the robust linkage between X-linked CASK haploinsufficiency and...

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Identifiers

PMID: 29067402
DOI: 10.1167/iovs.17-22399
PMCID: PMC5656421

Genes

CASK

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