Multimodal optical imaging of iris flocculi in three consecutive generations: a case report.

ABSTRACT:

Background

Multiple pigmented epithelial cysts at the edge of pupils, that is, iris flocculi, in both eyes, are rare ocular diseases. It has been demonstrated that this disease can be attributed to mutations in the smooth muscle α-actin 2 (ACTA2) gene, which mainly affects the function of smooth muscle cells (SMCs). SMCs are components of the iris, aorta, and several other systemic organs. In addition, iris flocculi are strongly correlated with familial thoracic aortic aneurysm and dissection (TAAD), which is caused by the mutation of amino acid 149 in the ACTA2 gene.

Case description

A 6-month-old Chinese boy was found to have iris flocculi during ocular fundus screening for premature infants. His mother, a 30-year-old Chinese woman with a history of aortic di

SUBMITTER: Jiang A 

PROVIDER: S-EPMC11390461 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature