engleski

Amaurosis fugax caused by hereditary thrombophilia due to mutation of gene

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 hereditgary thrombophilia.

amaurosis fugax; thrombophilia; hereditary

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