Metabolic and neuroactivity imbalances in plasma from aniridia patients with PAX6 haploinsufficiency.

The article discusses metabolic and neuroactivity imbalances in the plasma of aniridia patients with PAX6 haploinsufficiency, a genetic condition causing congenital eye abnormalities. The study found disruptions in lipid and energy metabolism, increased oxidative stress, neurotransmitter imbalances, and alterations related to the gut microbiome in these patients. The research highlights the systemic nature of congenital aniridia and emphasizes the importance of multidisciplinary management and further exploration of therapeutic approaches for both ocular and systemic manifestations. [Extracted from the article]