Site-specific abnormalities in the visual system of a mouse model of CDKL5 deficiency disorder.

ABSTRACT: CDKL5 deficiency disorder (CDD) is a neurodevelopmental disorder characterized by a severe global developmental delay and early-onset seizures. Notably, patients show distinctive visual abnormalities often clinically diagnosed as cortical visual impairment. However, the involvement of cerebral cortical dysfunctions in the origin of the symptoms is poorly understood. CDD mouse models also display visual deficits, and cortical visual responses can be used as a robust biomarker in CDKL5 mutant mice. A deeper understanding of the circuits underlying the described visual deficits is essential for directing preclinical research and translational approaches. Here, we addressed this question in two ways: first, we performed an in-depth morphological analysis of the visual pathway, from the retina

SUBMITTER: Lupori L 

PROVIDER: S-EPMC6736061 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature