C. Cursiefen et al., Recurrent optic nerve head infarctions associated with combined factor V Leiden- and factor II : G20210A-mutation, ACT OPHTH S, 77(6), 1999, pp. 625-627
Purpose: To demonstrate the association of bilateral recurrent optic nerve
head infarctions with thrombophilia due to combined factor V:R506Q- and fac
tor 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 o
n the left and 20/25 on the right eye.
Results: Ophthalmologic, cardiologic, radiologic, neurologic and hematologi
c-immunologic examinations were unremarkable except for increased APC-resis
tance (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, Thera
py 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.