Retinal Arteriovenous Malformation in Wyburn-Mason Syndrome: A Rare Diagnostic Challenge Mimicking Central Retinal Vein Occlusion

Abstract

Wyburn-Mason syndrome (WMS) is a rare congenital disorder characterized by retinal and intracranial arteriovenous malformations (AVMs). These vascular anomalies can resemble central retinal vein occlusion (CRVO), potentially leading to misdiagnosis and inappropriate treatment. A 50-year-old female was initially misdiagnosed with CRVO and received intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections. Despite partial regression of macular edema, persistent vascular anomalies prompted multimodal imaging, confirming the diagnosis of WMS. Fundus examination revealed dilated, tortuous arteriovenous vessels extending from the optic disc, with macular exudation and a localized vitreous hemorrhage. Fluorescein angiography demonstrated early arteriovenous shunting without capillary nonperfusion, distinguishing it from CRVO. Optical coherence tomography (OCT) showed persistent cystoid macular edema without subretinal fluid. Systemic evaluation ruled out additional intracranial AVMs, apart from the patient’s known primary sclerosing cholangitis. Despite anti-VEGF therapy, macular edema only partially improved, and vision remained stable. This case underscores the importance of distinguishing WMS from CRVO through multimodal imaging and highlights the limited efficacy of anti-VEGF therapy in WMS-associated macular edema. Accurate differentiation between these conditions is essential for optimizing management and preventing unnecessary interventions. © © 2025 The author(s). This is an open-access article under the terms of the Creative Commons Attribution License (CC BY) which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.