P 705. Axenfeld-Rieger Anomaly and Neuropsychiatric Symptoms

Background: Axenfeld-Rieger anomaly describes the dysgenesis of the anterior segment of the eye, involving the cornea, iris, and the chamber angle, often leading to congenital glaucoma.

Goals: Here, we show the co-occurrence of Axenfeld-Rieger anomaly and neuropsychiatric symptoms as a sign of genetically determined cerebral small-vessel disease.

Methods: Cerebral magnetic resonance imaging (MRI). Literature research.

Results: We report the cases of two patients with Axenfeld-Rieger anomaly presenting with neuropsychiatric symptoms. Cerebral MRI showed T2-white-matter hyperintensities involving the frontotemporal regions in both patients. The findings were consistent with cerebral small-vessel disease. Genetic testing revealed pathogenic mutations in the FOXC1 gene in patient 1, a 15-year-old boy from Jordan and in the COL4A1 gene in patient 2, a 17-year-old girl from Germany.

Conclusion: We report the co-occurrence of ocular anterior chamber dysgenesis and neuropsychiatric symptoms as a sign of genetically determined cerebral small-vessel disease in two patients. In both patients, the cerebral lesions involved the frontotemporal regions, areas that control social behavior and cognitive function, sufficiently explaining the patients’ neuropsychiatric symptoms.

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