title: 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.affiliation: Department of Ophthalmology, Royal Victoria Hospital, Belfast , Northern Ireland , UK .
authors.forename: Sarah
authors.initials: S
authors.lastname: Chamney
authors.forename: Stuart
authors.initials: S
authors.lastname: McGimpsey
authors.forename: Vivienne
authors.initials: V
authors.lastname: McConnell
authors.forename: Colin E
authors.initials: CE
authors.lastname: Willoughby
mesh_terms: D000199:Actins / Q000235:genetics*; D000328:Adult; D017545:Aortic Aneurysm, Thoracic / Q000235:genetics* / Q000601:surgery; D015415:Biomarkers; D003560:Cysts / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007499:Iris Diseases / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D041623:Tomography, Optical Coherence
chemical_list: C541116:ACTA2 protein, human; D000199:Actins; D015415:Biomarkers