Iris Flocculi Investigated for Familial Thoracic Aortic Aneurysms and Dissections

Abstract

Slit-lamp examination revealed bilateral iris flocculi (Fig A, right eye; Fig B, left eye), and pigment epithelial excrescences at the pupillary border in a 35-year-old patient. Computed tomography angiography with axial (Fig C) and sagittal (Fig D) views diagnosed a type B aortic aneurysm (right aberrant subclavian artery to infrarenal artery). The patient carried a heterozygous, pathogenic variant in the ACTA2 gene (c.445C>T, p.Arg149Cys) that causes familial thoracic aortic aneurysms and dissections (TAAD).