Ultrastructural appearance of iris flocculi associated with a thoracic aortic aneurysm and dissections.

摘要

Pigmented iris cysts are characterised by cystic neoplasia originating from the pigmented epithelium of the iris and, similar to pigmented tumours of the iris, requite differential diagnosis. Shields reported multiple pigmented epithelial cysts at the pupillary margin as iris flocculi in association with a thoracic aortic aneurysm and dissections (TAAD).2 Recently, a mutation in smooth muscle alpha-actin (ACTA2) was identified as a risk haplotype. We report two cases of bilateral pigmented iris flocculi caused by a mutation in ACTA2.