Recurrent optic nerve head infarctions associated with combined factor V Leiden- and factor II:G20210A-mutation

Purpose: To demonstrate the association of bilateral recurrent optic nerve head infarctions with thrombophilia due to combined factor V:R506Q- and factor II:G20210A-mutation. Methods: Case report. We examined a 55-year-old man with a two-year history of three segmental optic nerve head infarctions. Visual acuity was 20/80 on the left and 20/25 on the right eye. Results: Ophthalmologic, cardiologic, radiologic, neurologic and hematologic-immunologic examinations were unremarkable except for increased APC-resistance (APC ratio: 1.4; normal value >2) due to heterozygous factor V:R506Q-mutation and high factor II-leveIs due to factor If:G20210A-mutation, Therapy with coumarin was instituted at INR 2.0-3.0 and no relapse has occurred over the past 1-year period. Conclusion: Combined occurrence of thrombogenic factor II:G20210A-mutation and factor V:R506Q-mutation may be causally linked to recurrent optic nerve head infarctions.