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Samantha Schockman, Charles J Glueck, Robert K Hutchins, Ping Wang; Diagnostic ramifications of ocular vascular occlusion as a first thrombotic event associated with Factor V Leiden and Prothrombin Gene heterozygosity. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):209.
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© ARVO (1962-2015); The Authors (2016-present)
Assess the diagnostic ramifications of ocular vascular occlusion (OVO) as a first thrombotic event associated with factor V Leiden (FVL) and/or Prothrombin Gene (PTG) heterozygosity.
Patients with OVO, free of cardio-embolic etiologies (n=264), were sequentially referred from vitreoretinal specialists for measurement of thrombophilia-hypofibrinolysis, and compared to 111 healthy normal controls.
Of the 264 patients, 27 (15 women, 12 men), 10% of all referred OVO cases, were found to have familial thrombophilias (FVL and/or PTG), including 15 with FVL, 11 PTG, and 1 with both FVL and PTG. Compared to controls, the 264 cases were marginally more likely to have ≥1 abnormality of FVL and/or PTG mutation (10% vs 5%, p=.071). Patients with OVO, compared to controls, were more likely to have low free protein S (9% vs 2%, p=.048), high homocysteine (21% vs 5%, p<.0001), high Factor VIII (19% vs 7%, p=.007), and high anticardiolipin IgM antibody (ACLA IgM) (8% vs 2%, p=.027). Of the 264 cases, 48% had ≥1 thrombophilic abnormality (FVL, PTG, free protein S, homocysteine, factors VIII and XI, and/or ACLA IgM), vs 19% of normal controls, p<.0001. Of the 27 cases with FVL and/or PTG, 15 had central retinal vein occlusion (CRVO), 5 non-arteritic anterior ischemic optic neuropathy (NAION), 4 central retinal artery occlusion (CRAO), 2 amaurosis fugax (AF) and 1 had both CRVO and CRAO. Of the 15 FVL cases, 14 (93%) had OVO as a first thrombotic event without prior DVT or PE, 5 (33%) had other thrombotic events including recurrent miscarriages, osteonecrosis, ischemic stroke and/or ischemic colitis, and 5 (33%) had immediate family members with previous venous thromboembolism (VTE). Of the 11 PTG cases, 8 (73%) had OVO as a first thrombotic event, 5 (45%) experienced VTE other than DVT or PE, and 5 (45%) had immediate family members with VTE. In 1 patient with both FVL and PTG, DVT occurred before CRVO. Of the 15 women with FVL and/or PTG mutations, 7 (47%) experienced ≥1 miscarriage, 4 (27%) were on estrogen, and 1 (7%) was on Clomiphene.
Of the 264 patients with OVO, 27 (10%) had FVL and/or PTG, and 81% of these cases presented with OVO as their first thrombotic event. By diagnosing thrombophilia as an etiology for OVO, the ophthalmologist opens a window to family screening and preventive therapy.
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