Iris and Retinal Findings in Multisystemic Smooth Muscle Dysfunction Syndrome

Ophthalmology(2023)

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摘要
A 42-year-old man with multisystem smooth muscle dysfunction syndrome associated with a heterozygous ACTA2 gene mutation [c.536G>A, p.(Arg179His)] presented for routine ophthalmic examination. He had a history of prune belly syndrome, patent ductus arteriosus, aortic dissection, and abdominal aortic aneurysm. Best-corrected visual acuity was 20/20 in each eye. Anterior segment examination revealed mydriasis with scalloped pupillary margins, and persistent pupillary membranes extending from iris collarettes (A). Fundus examination and near-infrared imaging revealed significant retinal arteriolar corkscrew tortuosity both in the posterior pole and periphery (B). OCT (C) and OCT angiography (D) demonstrated corkscrew vessel elongation into the outer nuclear layer. (Magnified version of Figure A-D is available online at www.aaojournal.org).
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retinal findings,muscle
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