Abstract

of cells similar to goblet cells in nonpigmented cysts. The ACTA2 gene, encoding vascular smooth muscle actin and the most abundant protein in smooth muscle cells (SMCs), plays an important role in actin filament assembly and SMC contractions.3 It is also reported to be expressed in SMCs of the iris, functioning as the contracting protein to move the iris. Guo et al reported a large family with autosomal dominant TAAD with iris flocculi caused by an aortic aneurysm and familial thoracic 6 (AAT6), an allelic variant of ACTA2, Arg149Cys.3 We confirmed that both of the current patients had this mutation. The reason why a mutation of ACTA2 causes cystic iris malformation with numerous gob-let cells remains to be elucidated. We specu-lated that SMC hyperplasia and disarray caused by AAT6 could result in damage to the structural integrity of the iris and forma-tion of iris flocculi. Considering the concomitant TAAD among patients with iris flocculi, recognition of the ocular manifestations can result in recognition of cardiovascular disorders.