This 10YO boy recently moved to the area with a prior diagnosis of Wyburn-Mason syndrome. Prior neurologic imaging was negative, and he was otherwise healthy. Vision was 20/400 OD and 20/20 in his normal left eye.
Optos color RG imaging of his right eye shows tangles of markedly dilated and tortuous vessels covering the optic nerve and posterior pole. The vessels are sheathed superiorly and temporally. Subretinal lipid surrounds the posterior pole. En face OCT angiography highlights these dilated inner retinal vessels. Observation was recommended.
Learning Points:
A retinal arteriovenous malformation (AVM) is a congenital connection between an artery and a vein without an intervening capillary network. These lesions appear along a spectrum ranging from small, isolated lesions to the large ‘bag of worms’ appearance as seen in our patient. These more extensive lesions are usually part of the Wyburn-Mason Syndrome, which includes ocular and midbrain vascular lesions. Our patient has an isolated retinal AVM, with no intracranial lesions.
Although retinal AVMs are usually stable lesions, secondary venous occlusions may occur, and the peripheral vascular sheathing in our patient likely indicates a prior occlusion. The subretinal lipid in our patient is a very atypical finding in our experience.
