Psychoneurological Disorders in Children with Congenital Aniridia and <i>PAX6</i>-Associated Syndromes

Congenital aniridia manifests with total or partial absence of the iris. The association disease PAX6 gene has been proven. Changes in structure lead to intrauterine pathology, visual organ malformation, malformation master regulator proteins organogenesis affecting various cells’ differentiation (central nervous system cells included). Such disorders result into development PAX6-associated syndromes brain malformations, neurological disorders, and systemic pathology (thyroid Wilms tumor, glucose intolerance). Isolated congenital is also accompanied by psychoneurological disorders. It can be associated structures’ during embryogenesis impact external stress factors on child (frequent medical checkup, surgical treatments). disorders’ pathogenesis as well aniridia’s genetic mechanisms remain unclear. Thus, it crucial review new relevant data within context previously obtained information gather full picture clinical signs improve management children aniridia.