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Wyburn-Mason syndrome is a unilateral, sporadic disorder characterized by arteriovenous malformations (AVMs) of the retina, face, and central nervous system. Clinically, these lesions often manifest as dilated, tortuous retinal vessels.1 We report a complication of Wyburn-Mason syndrome, peripheral retinal neovascularization, that has not yet been described to our knowledge. Additionally, we present an iatrogenic consequence consisting of extensive retinal and choroidal ischemia after intra-arterial embolization therapy for posterior intracranial AVM extension.
Report of a Case
A boy was referred for vascular abnormalities in the right eye. On examination, visual acuity was counting fingers OD and 20/20 OS. Adnexal examination findings were notable for facial telangiectasias in the right V2 distribution. Intraocular pressure and anterior segment examination findings were unremarkable. Examination revealed dilated, tortuous arteriovenous vessels emanating from the right optic nerve, consistent with Wyburn-Mason syndrome, and a normal left eye.
During the next 2 years, visual acuity of the right eye progressed to no light perception. Computed tomography demonstrated posterior extension of the AVM into the right optic nerve, chiasm, and tract. The ocular examination findings were unchanged and the patient was referred to pediatric neurosurgery. No intervention was recommended. Follow-up 3 years later revealed new peripheral retinal neovascularization in the right eye. Fluorescein angiography showed diffuse capillary dropout and late leakage (Figure 1A and B). There was no angiographic evidence of a vein occlusion. Sectoral laser photocoagulation was performed initially, with an additional 360° laser 3 months later because of worsening retinal neovascularization. Follow-up fluorescein angiography demonstrated full regression of neovascularization (Figure 1C and D).
A, Right eye with an optic nerve arteriovenous malformation, retinal ischemia, and sclerotic vessels (arrowhead). B, Late phase with capillary dropout (yellow arrowheads) and leakage (red arrowhead). C, Regression of retinal neovascularization after sectoral laser photocoagulation. D, Late phase without leakage.
Posterior extension of the AVM to the contralateral optic nerve led to intra-arterial embolization by pediatric neurosurgery. Postoperatively, right ptosis and extraocular movement restriction occurred secondary to partial reflux of the onyx into the internal carotid artery. Suspected cavernous sinus thrombosis was treated. Widespread retinal and choroidal infarction (Figure 2) was subsequently noted on ultra–wide-field angiography.
A, Fundus photograph of the right eye demonstrates regression of the arteriovenous malformation and diffuse sclerosis of the retinal vasculature after treatment with intra-arterial embolization. B, Late-phase ultra–wide-field angiography shows near-complete retinal and choroidal infarction.
Retinal AVMs were first described by Magnus in 1874 and later by Wyburn-Mason and Bonnet-Dechaume-Blanc in 1937.1 The majority of these lesions are stable2; however, reported complications include vitreous hemorrhage,1 venous occlusions,1 macular ischemia,3 both serous and rhegmatogenous retinal detachments,4 and neovascular glaucoma.5
Although many associated complications imply ischemia-derived pathology, we report the first case, to our knowledge, of Wyburn-Mason syndrome with peripheral retinal neovascularization and successful laser treatment. Hypothetical mechanisms include retinal ischemia from partial thromboses (secondary to increased vascular turbulence), direct compression of venous vasculature from the AVM, or a “steal” phenomenon from differential circulation to the lesion and surrounding retina.1,2 Bloom et al5 reported an AVM case of retinal ischemia, sclerotic vessels, and neovascular glaucoma noted on fluorescein angiography; tractional retinal detachment developed, implying retinal fibrovascularization. In 1989, Mansour et al6 described an isolated retinal AVM with a neovascular tuft months after an episode of retinal hemorrhage, ischemia, and vascular sheathing.
Observation is usually indicated owing to the stability of these lesions.1,2 However, intra-arterial embolization has been reported for both intracranial and maxillofacial AVMs.2 In our case, treatment was pursued owing to progression into the optic chiasm and tract that threatened the contralateral eye. Unfortunately, retinal and choroidal infarction and cranial nerve palsies occurred postoperatively. Subsequent visual field testing revealed dense temporal hemianopia in the visually unimpaired eye. Spontaneous retinal and choroidal infarctions have been reported.2 In this case, however, the time course of injury suggests direct complication from embolization therapy.
We present 2 novel complications, to our knowledge, of Wyburn-Mason syndrome: peripheral retinal ischemia and neovascularization treated successfully with laser and diffuse retinal and choroidal ischemia after intra-arterial embolization therapy. Both observations and serial ultra–wide-field imaging highlight important aspects of the vascular pathology encountered in managing patients with Wyburn-Mason syndrome.
Corresponding Author: Antonio Capone Jr, MD, Associated Retinal Consultants, 3535 W 13 Mile Rd, Ste 344, Royal Oak, MI 48073 (firstname.lastname@example.org).
Published Online: April 23, 2015. doi:10.1001/jamaophthalmol.2015.0716.
Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest and none were reported.
Rao P, Thomas BJ, Yonekawa Y, Robinson J, Capone A. Peripheral Retinal Ischemia, Neovascularization, and Choroidal Infarction in Wyburn-Mason Syndrome. JAMA Ophthalmol. 2015;133(7):852–854. doi:10.1001/jamaophthalmol.2015.0716
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