Abstract

Summary

This paper discusses the role of the CASK gene in the development of Optic Nerve Hypoplasia (ONH), a leading cause of childhood blindness, and suggests that the loss of CASK signaling in retinal ganglion cells is not sufficient to lead to further disruption in the assembly of the subcortical visual circuit.
Categories

Categories

Eye health: The paper explores the genetic and molecular mechanisms underlying Optic Nerve Hypoplasia, a leading cause of childhood blindness, with a focus on the role of the CASK gene.
Genetics: The paper investigates the role of the CASK gene in the development of Optic Nerve Hypoplasia, demonstrating that heterozygous deletion of CASK in mice recapitulates many of the phenotypes observed in patients with CASK mutations.
Neurology: The paper discusses the role of retinal ganglion cells, the projection neurons of the retina, in the development of Optic Nerve Hypoplasia, suggesting a non-cell autonomous mechanism for loss of CASK in ONH.
Authors

Author(s)

AM Kerr
Publication Date

Publication Year

2019
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