title: Diagnostic ramifications of ocular vascular occlusion as a first thrombotic event associated with factor V Leiden and prothrombin gene heterozygosity.
abstract: OBJECTIVE
  This study aimed to assess the diagnostic ramifications of vascular occlusion of the ocular vein and artery as a first thrombotic event associated with factor V Leiden (FVL) and/or prothrombin gene (PTG) heterozygosity.
  
  
  METHODS
  Patients with ocular vein (n=191) and artery (n=74) occlusion, free of cardioembolic etiologies, were sequentially referred from vitreoretinal specialists for measurement of thrombophilia-hypofibrinolysis and compared to 110 healthy normal controls.
  
  
  RESULTS
  Of the 265 patients, 29 (11%; 17 women, 12 men) of all referred ocular vascular occlusion (OVO) cases were found to be heterozygous for FVL and/or PTG, including 16 with FVL, 12 with PTG, and 1 with both. Of the 29 cases, 16 had central retinal vein occlusion (CRVO), 2 branch retinal vein occlusion (BRVO), 5 nonarteritic anterior ischemic optic neuropathy (NA-AION), 3 retinal artery occlusion (RAO), 2 amaurosis fugax (AF), and 1 had both CRVO and RAO. Of the 16 FVL cases, 15 (94%) had OVO as a first thrombotic event without prior deep venous thrombosis (DVT) or pulmonary embolism (PE); 6 (38%) also had other thrombotic events, including recurrent miscarriage, osteonecrosis, ischemic stroke, and/or ischemic colitis; and 5 (31%) had immediate family members with previous venous thromboembolism (VTE). Of the 12 PTG cases, 9 (75%) had OVO as a first thrombotic event, 5 (42%) experienced VTE other than DVT or PE, and 6 (50%) had immediate family members with VTE. In one patient with both FVL and PTG, DVT occurred before BRVO. Of the 17 women with FVL and/or PTG mutations, 7 (41%) experienced ≥1 miscarriage, 6 (35%) were on estrogen therapy, and 1 (6%) was on clomiphene.
  
  
  CONCLUSIONS
  Of the 265 patients with OVO, 29 (11%) had FVL and/or PTG, and 83% of these 29 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.
authors.affiliation: Internal Medicine Residency Program, The Jewish Hospital-Mercy Health, Cincinnati, Ohio, USA.
authors.forename: Samantha
authors.initials: S
authors.lastname: Schockman
authors.affiliation: Cholesterol, Metabolism, and Thrombosis Center, The Jewish Hospital-Mercy Health, Cincinnati, Ohio, USA ; Mercy Health Physicians, Mercy Health, Cincinnati, Ohio, USA.
authors.forename: Charles J
authors.initials: CJ
authors.lastname: Glueck
authors.affiliation: Department of Ophthalmology, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA ; Cincinnati Eye Institute, Cincinnati, Ohio, USA.
authors.forename: Robert K
authors.initials: RK
authors.lastname: Hutchins
authors.affiliation: Cholesterol, Metabolism, and Thrombosis Center, The Jewish Hospital-Mercy Health, Cincinnati, Ohio, USA.
authors.forename: Jaykumar
authors.initials: J
authors.lastname: Patel
authors.affiliation: Cholesterol, Metabolism, and Thrombosis Center, The Jewish Hospital-Mercy Health, Cincinnati, Ohio, USA.
authors.forename: Parth
authors.initials: P
authors.lastname: Shah
authors.affiliation: Cholesterol, Metabolism, and Thrombosis Center, The Jewish Hospital-Mercy Health, Cincinnati, Ohio, USA.
authors.forename: Ping
authors.initials: P
authors.lastname: Wang
keywords: anterior ischemic optic neuropathy; factor V Leiden; ocular vascular occlusion; prothrombin gene mutation; retinal artery occlusion; retinal vein occlusion