Spectrum of peripheral retinal ischemia in Wyburn-Mason synd
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Wyburn-Mason syndrome (WMS), also known as Bonnet-Dechaume-Blanc syndrome, is a rare, congenital, sporadic, unilateral condition characterized by retinal arteriovenous malformations (AVMs). Ipsilateral AVMs of the cerebrum and face may be associated, although extraretinal findings are not required for the diagnosis. The location and severity of these findings determine the patient's clinical presentation. Ocular complications include vitreous hemorrhage, retinal vein occlusion, macular edema, both serous and rhegmatogenous retinal detachments, and neovascular glaucoma.

Here presents a case of a 11-year-old male presented for a retina examination two weeks after experiencing sudden onset, persistent decreased visual acuity in the right eye, which was diagnosed as a central retinal vein occlusion (CRVO) with macular edema and a vitreous hemorrhage by an outside ophthalmologist. Family ocular history was non-contributory. At presentation, Snellen visual acuity in the right eye was 3/200 and 20/20 in the left eye, intraocular pressures were 15 mmHg in both eyes, and there was a right relative afferent pupillary defect.

Anterior segment exam was unremarkable in both eyes. Dilated fundus exam of the right eye demonstrated vitreous hemorrhage, along with sclerotic vessels and tortuous, dilated arteries and veins lacking an interposing capillary bed (Fig. 2A). The left eye was normal. Optical coherence tomography (OCT) of the right eye revealed cystoid macular edema (Fig. 2B), and fluorescein angiography revealed peripheral non-perfusion circumferentially with multiple areas of capillary dropout and focal areas of late leakage along dilated vessels, along with peripheral leakage due to retinal neovascularization (Fig. 2C). Magnetic resonance imaging of the brain was negative for arteriovenous malformations or any other abnormalities. There were no cutaneous findings. Given that the patient was diagnosed with a CRVO, hematologic workup was pursued (cardiolipin antibodies, homocysteine, factor V, PTT, PT/INR, Protein C and S, antithrombin III antigen), which were all negative except for a marginally elevated phosphatidylserine IgM.

The patient was treated with a combination of photocoagulation in the region of avascular peripheral retina and intravitreal bevacizumab. 6 months after treatment with 3 injections of bevacizumab, the cystoid macular edema improved, while the leakage along engorged vessels and peripheral neovascularization resolved (Fig. 2D, Fig. 2ED and E).

In conclusion Wyburn-Mason syndrome is a sporadic condition with a wide range of ophthalmic complications; it is important to consider neurological evaluation of patients with this condition. The two cases presented suggest that the retinal findings seen in Wyburn-Mason syndrome are progressive, and that close monitoring is important to detect worsening retinal ischemia, especially given the risk of neovascularization.

Source: https://www.sciencedirect.com/science/article/pii/S2451993619300453?dgcid=rss_sd_all