Case study: Wyburn-Mason syndrome with junctional scotoma

This article in the March issue of the Journal of Neuro-Ophthalmology presents the case of a 6-year-old girl with Wyburn-Mason syndrome with a junctional scotoma on visual field testing.

The girl, who was previously healthy and had no family history of ocular disease, had visual acuity of 20/50 in the right eye and 20/20 in the left eye.

Her neuro-ophthalmic examinations demonstrated a right relative afferent pupillary defect and loss of color appreciation (Hardy-Rand-Rittler color plates) in the right eye. Neurologic examination showed left hemiparesis and paresthesias.

Funduscopic examination and fluorescein angiography showed markedly dilated tortuous vascular loops with arteriovenous communications consistent with retinal arteriovenous malformations (AVMs). MRI of the brain and cerebral angiography demonstrated right ophthalmic and thalamic AVMs with compression and atrophy of the right optic chiasm.

Cyberknife treatment (25 Gy) of the thalamic and parachiasmal AVM failed to halt deterioration of the patient's visual acuity. By age 11, her visual acuity was no light perception in the right eye and remained 20/20 in the left eye. Her visual fields at that time showed generalized depression in the right eye and a superotemporal defect in the left eye, consistent with a junctional scotoma.