June 2013
Volume 54, Issue 15
ARVO Annual Meeting Abstract  |   June 2013
Thrombophilic mutations and risk of retinal vein occlusion
Author Affiliations & Notes
  • Silvia Mendes
    Ophthalmology, Leiria, Leiria, Portugal
  • António Campos
    Ophthalmology, Leiria, Leiria, Portugal
  • Diana Beselga
    Ophthalmology, Leiria, Leiria, Portugal
  • Arminda Neves
    Ophthalmology, Leiria, Leiria, Portugal
  • Joana Campos
    Ophthalmology, Leiria, Leiria, Portugal
  • Dulce Castanheira
    Ophthalmology, Leiria, Leiria, Portugal
  • Footnotes
    Commercial Relationships Silvia Mendes, None; António Campos, None; Diana Beselga, None; Arminda Neves, None; Joana Campos, None; Dulce Castanheira, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 6202. doi:
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      Silvia Mendes, António Campos, Diana Beselga, Arminda Neves, Joana Campos, Dulce Castanheira; Thrombophilic mutations and risk of retinal vein occlusion. Invest. Ophthalmol. Vis. Sci. 2013;54(15):6202.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose: The association between hereditary thrombophilia abnormalities and retinal vein occlusion (RVO) is not well established. Literature consists of small studies with controversial results. The objective was to describe thrombophilic risk factors in patients with diagnosed RVO

Methods: Consecutive patients with RVO were screened for thrombophilic risk factors in our department. There was no group control. Homocysteinemia, C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism,factor V 1691A (factor V Leiden), PT 20210A and plasminogen activator inhibitor-1 mutation (PAI1) were analysed. We excluded patients with renal disease, cancer, taking vitamin supplements or folate B12/B6, and drugs which influence the serum concentration of homocysteine as estrogens, carbamazepine, antifolates, tricyclic antidepressants and phenytoin.

Results: The study group included 36 eyes of 36 patients, 26 male, 10 female, diagnosed with RVO. Central RVO in 14 eyes and branch RVO in 22 eyes. Mediam age was 65 (range 38-81), 13 patients were less than 60 years old. The MTHFR C677T polymorphism was found in 24 out of 36 (66,67%) patients with RVO (heterozygosity: 19 out of 36 and homozygosity: 5 out of 36). Plasminogen activator inhibitor-1 mutation was found in 16 out of 36 patients (44,4%). One patient had factor V Leiden and another presented PT 20210A mutation. Homocysteinemia level was high in 21,4% of patients, in average more 5μm/L on C667T MTHFR homozygosity than in other polymorphisms. The prevalence of mutations in the younger group was not statistically significant compared to older subjects.

Conclusions: The hereditary thrombophilia abnormalities tested in our study are known as risk factors for venous thrombosis as well as for arterial vascular disease. They were very common in patients diagnosed with RVO, but a control group should be matched for more consistent conclusions.

Keywords: 749 vascular occlusion/vascular occlusive disease • 604 mutations • 688 retina  

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