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


CONCLUSIONS
Combined occurrence of thrombogenic factor II:G20210A-mutation and factor V:R506Q-mutation may be causally linked to recurrent optic nerve head infarctions.
Cursiefen
C
C
Department of Ophthalmology, University Eye Hospital, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany. claus.cursiefen@augen.med.-uni-erlangen.de
Schönherr
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U
Schwender
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S
Grossmann
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R
D005165:Factor V / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007238:Infarction / Q000097:blood / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009898:Optic Disk / Q000098:blood supply*; D017354:Point Mutation; D011486:Protein C / Q000378:metabolism; D011516:Prothrombin / Q000235:genetics*; D012008:Recurrence; D019851:Thrombophilia / Q000097:blood / Q000150:complications / Q000235:genetics; D014792:Visual Acuity
D011486:Protein C; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin