Related Experiment Video
Updated: May 8, 2026

07:23
Retinal Vascular Reactivity as Assessed by Optical Coherence Tomography Angiography
Published on: March 26, 2020
Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections
Sarah Chamney1, Stuart McGimpsey, Vivienne McConnell
1Department of Ophthalmology, Royal Victoria Hospital, Belfast , Northern Ireland , UK .
Ophthalmic Genetics
|September 12, 2013
Abstract:
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.
