title: Amaurosis fugax caused by hereditary thrombophilia due to mutation of gene.
abstract: We are presenting a 59-year-old woman and 37-year-old man with amaurosis fugax. They underwent a comprehensive ophthalmological and neurological examination. Standard diagnostic examination revealed no possible cause of this temporary condition, therefore additional genetic analysis for possible hereditary thrombophilia was performed. Examination established hereditary thrombophilia: the heterozygotic type gene for MTHFR (C677), deletion/insertion polymorphism for PAI-1 (4G/5G) in women and deletion/insertion polymorphism 4G/5G for PAI-1 and heterozygotic genotype DD (190 bp) for angiotensin converting enzyme (ACE) in man. In our patients, amaurosis fugax is probably caused by hereditary thrombophilia (Ref. 16). Full Text (Free, PDF) www.bmj.sk.
authors.affiliation: Department of Neurology, Split University Hospital, Split, Croatia. marina.titlic@gmail.com
authors.forename: M
authors.initials: M
authors.lastname: Titlic
authors.forename: M
authors.initials: M
authors.lastname: Bradic-Hammoud
authors.forename: L
authors.initials: L
authors.lastname: Miric
mesh_terms: D000328:Adult; D020757:Amaurosis Fugax / Q000209:etiology*; D005260:Female; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics*; D019851:Thrombophilia / Q000151:congenital* / Q000235:genetics*
chemical_list: D017395:Plasminogen Activator Inhibitor 1; D042965:Methylenetetrahydrofolate Reductase (NADPH2)