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

ABSTRACT:

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 clinically diagnosed ONH, we hypothesized that heterozygous deletion of CASK (CASK(+/-)) in rodents will produce an optic nerve pathology closely recapitulating ONH. We quantitatively analyzed the entire subcortical visual system in female CASK(+/-) mice using immunohistochemistry, anterograde axonal tracing, toluidine blue staining, transmission electron microscopy, and seria

SUBMITTER: Liang C 

PROVIDER: S-EPMC5656421 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature