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A 17-year-old boy presented with recurrent headache for several weeks and sudden vision loss on the left eye to light perception. On slit lamp examination partial aniridia with transillumination was identified (Fig 1A). Ophthalmoscopy and angiography of the left eye revealed a central retinal artery occlusion (Fig 1B, D). Computed tomography of the cardiovascular and cerebrovascular system discovered ectasia of all major arterial vessels, including carotid and cerebral arteries (Fig 1C). Genetic analysis revealed a missense mutation of the ACTA2 gene, encoding for a smooth muscle isoform of α-actin.

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