Journal of Neuro-Ophthalmology:
Abstract: A previously healthy girl failed a routine eye screening at the age of 6 years. Her visual fields showed generalized depression in the right eye and a superotemporal defect in the left eye, consistent with a junctional scotoma. Funduscopic examination and fluorescein angiography revealed 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 right thalamic AVMs, with compression and atrophy of the right optic chiasm. This represents a case of Wyburn-Mason syndrome with a junctional scotoma.
Departments of Ophthalmology (AL, Y-WC, YJL) and Neurosurgery (SC), Stanford University School of Medicine, Stanford, California.
Y.J. Liao is supported by the Career Award in Biomedical Sciences from the Burroughs Wellcome Foundation.
Address correspondence to Yaping Joyce Liao, Department of Ophthalmology, Stanford University Medical Center, 2452 Watson Court, Palo Alto, CA 94303; Email: firstname.lastname@example.org
Apreviously healthy girl without family history of ocular disease failed a routine vision screening at the age of 6 years, with visual acuities of 20/50, right eye and 20/20, left eye. At 9 years of age, her best-corrected visual acuity in her right eye deteriorated to 20/160 and at 11 years, no light perception. Her visual acuity in the left eye remained at 20/20. Her neuro-ophthalmic examinations also demonstrated a right relative afferent pupillary defect and loss of color appreciation (Hardy-Rand-Rittler color plates) in the right eye. Funduscopic examination revealed a retinal arteriovenous malformation (AVM) with enormous vascular loops in the right eye obscuring the optic disc and optic disc pallor in the left eye (Fig. 1). Her neurologic examination was significant for left hemiparesis and paresthesias.
Automated visual field testing at 11-years of age demonstrated generalized depression in the right eye and a superotemporal defect in the left eye, consistent with a junctional scotoma (Fig. 2). Fluorescein angiography of the right eye demonstrated giant vascular loops with early filling of veins and direct arteriovenous connections with no evidence of leakage (Fig. 3). Brain MRI and cerebral angiography revealed right optic nerve and right chiasmal atrophy. There was an AVM located distal to the origin of the right ophthalmic artery and surrounding the orbital and canalicular portions of the right optic nerve (Fig. 4A, B). There was also a large right thalamic AVM with right chiasmal compression and atrophy (Fig. 4C, D).
Following Cyberknife treatment (25 Gy) of the thalamic and parachiasmal AVM, the ophthalmic artery AVM enlarged, and visual acuity in the right eye declined to 20/400. Cyberknife treatment (30 Gy) to the right orbital AVM failed to halt progression, and her right visual acuity declined to no light perception over the following 5 months. Vision in the left eye remained stable at 20/20 two years later.
Wyburn-Mason syndrome, also known as Bonnet-Dechaume-Blanc syndrome, is a rare disorder with 3 essential elements: retinal AVM, brain AVM, and vascular changes of the face (1,2). A recent comprehensive review by Schmidt et al (3) identified 52 reported cases. The vascular malformations are not hereditary and are generally unilateral high-flow systems. The ocular complications of Wyburn-Mason syndrome include venous occlusions; intraretinal, macular, and vitreous hemorrhage; optic nerve dysfunction; glaucoma; extraocular motility disorders; nystagmus; and pulsatile proptosis. Forty-eight percent of patients with Wyburn-Mason syndrome have light perception or no light perception vision in the eye with retinal AVM (3). With involvement of the retrochiasmal visual pathways by an AVM (3–5), the most common pattern of visual field loss is homonymous hemianopia. A monocular temporal hemifield defect has also been described (6–8). Other neurologic symptoms, such as hemiparesis and sensory abnormality, depend on the location of the cerebral AVMs (3,9).
These vascular lesions carry a 2%–4% risk of bleeding with a 1% risk for death per year (10,11). Current treatment options for the cerebral AVMs of Wyburn-Mason syndrome include stereotactic radiosurgery, endovascular embolization, and microsurgical resection (12–15). The prognosis is best for lesions less than 3 cm, with complications occurring more frequently for those greater than 6 cm. Although rare, spontaneous involution has been reported (7).
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