Ophthalmic Artery Occlusion as a Novel Ophthalmic Manifestation of ACTA2- Related Vascular Smooth Muscle Disorder.

Abstract

This case describes a 12-year-old patient with a known history of an actin-alpha 2 (ACTA2) gene mutation who presented with an ophthalmic artery occlusion (OAO). The patient's medical history was significant for multiple strokes and a left homonymous hemianopia. She presented to the emergency department with acute visual loss in the right eye and hypertension and was diagnosed with an OAO affecting the right eye. The aim of this report is to highlight a unique ophthalmic complication associated with ACTA2 mutations not previously documented in the literature.