Successful treatment of bilateral familial iris flocculi associated with aortic valve abnormalities

Abstract

Purpose

To report a case of familial iris flocculi in siblings associated with a possibly life-threatening aortic valve manifestation due to a smooth muscle alpha-actin 2 (ACTA2) gene variant and demonstrate successful treatment of iris flocculi with laser.

Observations

Two biological siblings, a 21-year-old male and a 24-year-old female, both presented with bilateral iris flocculi. The flocculi were causing visual disturbances for both patients. Treatment was provided in the form of yttrium aluminum garnet (YAG) laser to the cysts and remained stable at 2 year follow up. Cardiac investigations were launched and the female patient demonstrated a bicuspid aortic valve with a mildly dilated ascending aorta. Cardiac investigations for the male patient were normal. Gene sequencing revealed a pathogenic variant in the ACTA2 gene.

Conclusions and importance

Bilateral iris flocculi is a rare ocular condition that can demonstrate a familial component. Treatment of the cysts is required only when there are visual symptoms. We demonstrate successful long term treatment using Nd: YAG laser. There is a link between iris flocculi and a variant of ACTA2 and/or the smooth muscle (MYH11) genes. Patients with iris flocculi should have careful cardiac assessment looking for aortic anomalies as well as gene sequencing. Family members should be made aware and investigated.