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Recurrent optic nerve head infarctions associated with combined factor V Leiden- and factor II:G20210A-mutation
C Cursiefen1, U Schönherr, S Schwender
1Department of Ophthalmology, University Eye Hospital, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany. claus.cursiefen@augen.med.-uni-erlangen.de
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-levels due to factor II: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.