Abstract

Study Design-Case Report

Purpose-To present the rare occurrence of Iris flocculus and its cardio-vascular associations

Methods-Slit lamp examination, gonioscopy, fundus exam, ECG, ECHO, CTA and genetic sampling

Results- Eye examination in a 17 year old male revealed bilateral iris tufts in the pupillary margin. ECG and ECHO were normal. Family history revealed early demise of father at the age of 37 due to coronary artery ectasia and myocardial infarction. Coronary CTA to assess for coronary ectasia and thoracic aneurysm and genetic testing results are pending.

Conclusion-Iris flocculus, a rare variant of iris cysts has been reported in literature of having an association with familial Thoracic Aortic Aneurysmal Disease (fTAAD) with a genetic association with mutated actin-myosin genes affecting males of the same family.