Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections.

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.

• Authors: Sarah Chamney, Stuart McGimpsey, Vivienne McConnell, Colin E Willoughby
• Journal: Ophthalmic genetics (Ophthalmic Genet) Vol. 36 Issue 1 Pg. 86-8 (Mar 2015) ISSN: 1744-5094 [Electronic] England
• PMID: 24020716 (Publication Type: Case Reports, Letter)

Chemical References

• ACTA2 protein, human
• Actins
• Biomarkers

Topics

• Actins (genetics)
• Adult
• Aortic Aneurysm, Thoracic (genetics, surgery)
• Biomarkers
• Cysts (diagnosis, genetics)
• DNA Mutational Analysis
• Female
• Genetic Predisposition to Disease
• Humans
• Iris Diseases (diagnosis, genetics)
• Male
• Middle Aged
• Mutation, Missense
• Pedigree
• Tomography, Optical Coherence