Progressive Retinal and Cerebral Arteriovenous Malformations in Wyburn-Mason Syndrome: A 5-Year Follow-Up Case Report

This report presents a rare case of Wyburn-Mason syndrome (WMS) with documented progression of both retinal and cerebral arteriovenous malformations (AVMs) over 5 years, emphasizing the clinical significance of ocular changes that may be associated with cerebral involvement. A 6-year-old girl initially presented with unilateral blurred vision and was diagnosed with WMS due to a retinal AVMs in her left eye. Initial brain magnetic resonance imaging (MRI) showed no intracranial AVMs. At routine follow-up, she had developed headaches and nausea after 4 years, leading to diagnosis of a cerebral AVM, treated with Gamma Knife radiosurgery. Concurrently, fundus examination revealed progressive retinal AVM changes, accompanied by decreased best-corrected visual acuity and worsened optical coherence tomography findings. The parallel progression of retinal and cerebral AVMs highlights the dynamic nature of vascular malformations in WMS. This case underscores that vascular anomalies in WMS may evolve over time and may not remain isolated to a single organ. Progressive retinal AVM changes can signal potential cerebral involvement. Therefore, any ocular progression in WMS warrants timely neuroimaging, even if previous scans were normal. Reporting such rare cases can aid in improving early diagnosis and follow-up strategies in WMS.