Hereditary Thrombophilic Factors in Glaucoma

J Glaucoma. 2016 Feb;25(2):203-7. doi: 10.1097/IJG.0000000000000148.

Abstract

Purpose: To evaluate the hereditary thrombophilic factors in patients with primary open-angle glaucoma, exfoliative glaucoma, and exfoliation syndrome and to compare their results with those of healthy control subjects.

Materials and methods: The study included 75 patients [25 patients with primary open-angle glaucoma (group I), 25 patients with exfoliative glaucoma (group II), and 25 patients with exfoliation syndrome (group III)] and 25 healthy control subjects (group IV). Well-known hereditary thrombophilic factors including methylenetetrahydrofolate reductase (MTHFR) gene C677T mutation, prothrombin G20210A mutation, factor V Leiden mutation, activated protein C resistance, protein S, protein C, and antithrombin III activities, and homocysteine levels were measured in venous blood samples of all subjects.

Results: Fifty-one males and 49 females were included in the study. The mean age of the patients was 67.8 ± 8.7 years (range, 46 to 87 y). There was no statistically significant difference with regard to the mean age (P=0.057) and distribution of sex (P=0.391) between the study groups. The difference of homocysteine, folate, vitamin B12, antithrombin III activity, protein C activity, free protein S activity, and activated protein C resistance were not statistically significant; and the number of subjects with MTHFR C677T, prothrombin G20210A, and factor V Leiden mutations were similar between the study groups.

Conclusion: Our results suggest that there is no significant difference between the prothrombotic inherited risk factors of glaucomatous and nonglaucomatous subjects.

MeSH terms

  • Activated Protein C Resistance / metabolism
  • Aged
  • Aged, 80 and over
  • Antithrombin III / metabolism
  • Blood Coagulation Factors / genetics
  • Blood Coagulation Factors / metabolism*
  • Case-Control Studies
  • Exfoliation Syndrome / blood*
  • Exfoliation Syndrome / genetics
  • Factor V / genetics
  • Factor V / metabolism
  • Female
  • Glaucoma, Open-Angle / blood*
  • Glaucoma, Open-Angle / genetics
  • Homocysteine / blood
  • Humans
  • Intraocular Pressure
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / blood
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Prospective Studies
  • Protein C / metabolism
  • Protein S / metabolism
  • Prothrombin / genetics
  • Prothrombin / metabolism
  • Risk Factors
  • Thrombophilia / metabolism*

Substances

  • Blood Coagulation Factors
  • Protein C
  • Protein S
  • factor V Leiden
  • Homocysteine
  • Antithrombin III
  • Factor V
  • Prothrombin
  • Methylenetetrahydrofolate Reductase (NADPH2)

Supplementary concepts

  • Thrombophilia, hereditary