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Ophthalmic Images
May 14, 2020

Wyburn-Mason Syndrome in an 11-Year-Old Girl

Author Affiliations
  • 1Department of Ophthalmology, Kindai University Faculty of Medicine, Osaka, Japan
JAMA Ophthalmol. 2020;138(5):e191452. doi:10.1001/jamaophthalmol.2019.1452

An 11-year-old girl presented with a decrease in the vision of her left eye. Her visual acuity was 20/60 OS. The left eye fundus results showed retinal arteriovenous malformations with markedly convoluted, dilated, and tortuous retinal vessels extending from the disc (Figure).

On optical coherence tomography angiography, the foveal avascular zone could not be identified because of the anomalous vessel, and capillary nonperfusion areas were not evident. The anomalous vessels, especially on the superficial retinal vascular segment, had high flow. No intracranial arteriovenous malformations were detected with magnetic resonance imaging. Wyburn-Mason syndrome is a rare nonhereditary disorder in which vascular dysgenesis affects the retina and brain.