Thrombophilia: genetic polymorphisms and their association with retinal vascular occlusive disease

Objective: To assess the role of plasma total homocysteine (tHcy) concentrations and homozygosity for the thermolabile variant of the methylenetetrahydrofolate reductase (MTHFR) C677T gene as risk factors for retinal vascular occlusive disease.Design: Retinal vein occlusion (RVO) is an important cause of vision loss. Early meta-analyses showed that tHcy was associated with an increased risk of RVO, but a significant number of new studies have been published.Participants and/or Controls: RVO patients and controls. Methods: Data sources included MEDLINE, Web of Science, and PubMed searches and searching reference lists of relevant articles and reviews. Reviewers searched the databases, selected the studies, and then extracted data. Results were pooled quantitatively using meta-analytic methods.Main Outcome Measures: tHcy concentrations and MTHFR genotype.Results: There were 25 case-control studies for tHcy (1533 cases and 1708 controls) and 18 case-control studies for MTHFR (1082 cases and 4706 controls). The mean tHcy was on average 2.8 mol/L (95% confidence interval [CI], 1.8 -3.7) greater in the RVO cases compared with controls, but there was evidence of between-study heterogeneity (PϽ0.001, I2 ϭ 93%). There was funnel plot asymmetry suggesting publication bias. There was no evidence of association between homozygosity for the MTHFR C677T genotype and RVO (odds ratio [OR] 1.20; 95% CI, 0.84 -1.71), but again marked heterogeneity (P ϭ 0.004, I 2 ϭ 53%) was observed. Conclusions: There was some evidence that elevated tHcy was associated with RVO, but not homozygosity for the MTHFR C677T genotype. Both analyses should be interpreted cautiously because of marked heterogeneity between the study estimates and possible effect of publication bias on the tHcy findings.Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

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“…10 77 and 1 article reporting duplicate data. 48 A total of 1082 RVO cases and 4706 controls were included in the analysis.…”

Section: Methylenetetrahydrofolate Reductasementioning

confidence: 99%

Homocysteine, Methylenetetrahydrofolate Reductase C677T Polymorphism, and Risk of Retinal Vein Occlusion: A Meta-analysis

McGimpsey¹,

Woodside²,

Cardwell³

et al. 2009

Ophthalmology

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“…The association of thrombophilia must be considered because it increases the risk of thrombotic recurrence (2) . The coexistence of both hereditary (factor V Leiden) and acquired (primary APS) was also reported in patients with deep venous thrombosis or arterial thromboses supporting the concept that thromboembolism is a multifactorial disorder (4,5) . Factor V Leiden is undoubtedly a risk factor for thrombosis of large veins, but it is not considered for retinal vein occlusions.…”

Section: Discussionmentioning

confidence: 81%

Antiphospholipid syndrome and retinal vein occlusion

Costa¹,

Almeida

Campos

et al. 2009

Rev. bras.oftalmol.

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A 34-year-old white man presented with a sudden unilateral recurrent visual loss. Fundus examination and fluorescein angiography revealed severe retinal vein occlusion. An antiphospholipid syndrome was discovered during etiological check up. A mutation of Leiden V factor was discovered and the patient started long term anticoagulation after the second occlusive event. However, secondary neovascular glaucoma has developed and despite treatment the affected eye had an important reduction of visual acuity. The purpose of this case report is to demonstrate that retinal vascular occlusion can be the initial manifestation of the antiphospholipid syndrome and that its diagnosis is important because this disease generally affects young people and may endanger ocular and vital prognosis. This diagnosis may imply a long lasting anticoagulative or antiaggregative treatment to reduce the risk of recurrent thrombotic events.

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“…As causas mais comuns de hiper-ho-Estudos demonstram que hiper-homocisteinemia é considerada fator de risco para doença vascular retiniana, porém a deficiência congênita da enzima metileno-tetrahidrofolato redutase não está relacionada com aumento do risco do fenôme-no trombótico (10)(11)(12)(13)(14)(15) . A hiper-homocisteinemia é também considerada fator de risco para obstrução de veia central da retina (OVCR) e de ramo de veia central da retina.…”

Section: Discussionunclassified

Obstrução arterial retiniana periférica associada com hiper-homocisteinemia: relato de caso

Misawa

Suzuki²,

Júnior³

et al. 2008

Arq. Bras. Oftalmol.

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Thrombophilia: genetic polymorphisms and their association with retinal vascular occlusive disease

Cited by 23 publications

References 59 publications

Homocysteine, Methylenetetrahydrofolate Reductase C677T Polymorphism, and Risk of Retinal Vein Occlusion: A Meta-analysis

Homocysteine, Methylenetetrahydrofolate Reductase C677T Polymorphism, and Risk of Retinal Vein Occlusion: A Meta-analysis

Antiphospholipid syndrome and retinal vein occlusion

Obstrução arterial retiniana periférica associada com hiper-homocisteinemia: relato de caso

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