Article
Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections.
Ophthalmic genetics - 1 Mar 2015
Chamney Sarah, McGimpsey Stuart, McConnell Vivienne, Willoughby Colin E
Abstract excerpt
Non-syndromic familial thoracic aortic aneurysms and dissections (TAAD) are inherited in an autosomal dominant manner. We report a missense mutation in the smooth muscle α-actin (ACTA2; MIM*102620) gene in a 3 generational family from Northern Ireland in which iris flocculi were an ocular marker of the disease.
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.