Thrombophilic risk factors for retinal vein occlusion

Sci Rep. 2019 Dec 12;9(1):18972. doi: 10.1038/s41598-019-55456-5.

Abstract

The aim is to study risk factors for retinal vein occlusion (RVO), such as thrombophilic and cardiovascular risk factors (CRF). A retrospective consecutive case series of 60 patients with RVO was made, tested for CRF, hyperhomocysteinemia, lupic anticoagulant, antiphospholipid antibody and 5 gene variants: factor V (FV) Leiden (G1691A), factor II (PT G20210A), 5,1-methylenetetra-hydrofolate reductase (MTHFR; 677 C > T and 1298 A > C), plasminogen activator inhibitor 1 (PAI-1; 4 G/5 G). More than 1 CRF were present in 36 patients (60%), which had a significantly higher mean age at diagnosis (66.7 ± 12.9 versus 59.5 ± 13.7 with ≤1 CRF, [t(57) = -2.05, p = 0.045, d = 0.54). Patients with thermolabile MTHFR forms with decreased enzyme activity (T677T or C677T/A1298C) had a significant lower mean age [57.6 ± 15.1; t (58) = 3.32; p = 0.002; d = 0.846] than patients with normal MTHFR enzyme activity (68.5 ± 10.2). Regarding CRF and thermolabile forms of MTHFR, the mean age at diagnosis could be significantly predicted [F(2,56) = 7.18; p = 0.002] by the equation: 64.8 - 10.3 × (thermolabile MTHFR) - 5.31 × ( ≤ 1CRF). Screening of MTHFR polymorphisms may be useful in younger RVO patients, particularly when multiple CRF are absent.

MeSH terms

  • Adult
  • Age Factors
  • Aged
  • Aged, 80 and over
  • Female
  • Humans
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Middle Aged
  • Polymorphism, Genetic*
  • Retinal Vein Occlusion* / enzymology
  • Retinal Vein Occlusion* / etiology
  • Retinal Vein Occlusion* / genetics
  • Risk Factors
  • Thrombophilia* / complications
  • Thrombophilia* / enzymology
  • Thrombophilia* / genetics

Substances

  • MTHFR protein, human
  • Methylenetetrahydrofolate Reductase (NADPH2)