Ophthalmologic manifestations in Patients with Neuro-metabolic Disorders

Purpose: We aimed to present the ophthalmic manifestations of neuro-metabolic disorders. Methods: Patients who were diagnosed with neuro-metabolic disorders in the Neurology Department of Mofid Pediatric Hospital and Firoozabadi Hospital in Tehran, Iran, between ۲۰۲۲ and ۲۰۲۴ were included in this study. Disorders were confirmed using clinical findings, neuroimaging, laboratory data, and genomic analyses. All enrolled patients were assessed for ophthalmological abnormalities. Results: A total of ۱۱۲ patients with metabolic disorders and ophthalmologic findings were included. Mitochondrial disease was the most common diagnosis with pigmentary retinopathy. Conclusion: Ophthalmological consultation and assessment is essential in patients with neurometabolic disorders.