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Frini Makadia, Ilana Schlam, Matan Rothschild, Robert Hutchins, Robert Sisk, Ping Wang, Charles J Glueck; Ocular vascular occlusion: a diagnostic window to thrombophilia and thrombotic events. Invest. Ophthalmol. Vis. Sci. 2017;58(8):3658.
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We assessed the diagnostic utility of identifying ocular vascular occlusions (OVO) for diagnosis of familial and acquired thrombophilia and to identify important ramifications for both ocular and systemic thrombotic events.
Measures of thrombophilia and fibrinolysis were made in the 27 OVO patients, 8 with central retinal artery occlusions (CRAO) and 19 with central retinal vein occlusions (CRVO). These patients were compared to 110 healthy normal controls.
Within the 27 patients with OVO, 8 presented with CRAO (mean age ± SD, 38 ± 14 years; 5 females and 3 males) and 19 presented with CRVO (58 ± 15 year; 13F and 6M). Of the 8 cases with CRAO, 3 (38%) were heterozygous for the Factor V Leiden mutation vs 2/109 (2%) healthy normal controls (p=.002), 4 (50%) had high (>150%) Factor XI vs 3/101 (3%) controls (p=.0004), and 3 (38%) had high homocysteine (dated cut point ≥ 10.4-13.5 umol/L) vs 5/106 (5%) controls (p=.011). Of the 19 cases with CRVO, 6 (32%) had high Factor XI vs 3/101 controls (p=.0005) and 7 (39%) had high homocysteine vs 5/107 (5%) controls (p=.0002). Taken together, 3 of 24 (13%) OVO cases had low (<66%) free protein S vs 2 of 96 (2%) controls (p=.054).Of the 8 patients with CRAO, 5 were women of whom 3 (60%) were receiving thrombophilia-enhancing estrogen at the time of diagnosis; 3 of 5 (60%) had a history of miscarriage as well. Of the 8 patients with CRAO, 4 (50%) had a first degree family member with a history of venous thromboembolism (VTE). Of the 19 patients with CRVO, 13 were women, of whom 3 (15%) were receiving estrogen. Five of the nineteen patients with CRVO had a first degree family member with a history of VTE with 2 of 19 with a personal history of VTE.
By virtue of diagnosing and emphasizing the importance of familial and acquired thrombophilia as a common etiology of CRAO and CRVO, the retinologist is an early warning gatekeeper facilitating focus on familial thrombophilia and increased risk for VTE. Patients presenting with OVO, in particular CRAO and CRVO, should be assessed for thrombophilia particularly when presenting with additional risk factors including estrogen use, personal thrombotic events, and family history of VTE.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
Table 1: Coaguation disorders in patients with CRAO or CRVO compared to normal controls
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