Thrombophilic mutations and risk of retinal vein occlusion

Biancardi, Ana Luiza; Gadelha, Telma; Borges, Wander Inturias Sergillo; Moraes, Haroldo Vieira de; Spector, Nelson

doi:10.1590/s0004-27492007000600016

Cited by 23 publications

(14 citation statements)

References 37 publications

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“…However, in many cases none of these factors are present, and the question of hidden risk factors is raised. 18 In the past years, several scientific reports have suggested that HHcy may be related to an increased risk of retinal occlusion but not all authors confirmed a possibility of an active role of MTHFR C677T genotypes in the retinal vascular occlusions. Cahill 6 found that mean HHcy level was higher in 87 Irish patients with retinal vascular occlusive disease (RVOD) but the MTHFR C677T homozygosis was not associated with RVT.…”

Section: Discussionmentioning

confidence: 99%

Hyperhomocysteinemia and C677T MTHFR Genotype in Patients With Retinal Vein Thrombosis

Sottilotta

Siboni

Latella

et al. 2009

Clin Appl Thromb Hemost

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Section: Discussionmentioning

confidence: 99%

Hyperhomocysteinemia and C677T MTHFR Genotype in Patients With Retinal Vein Thrombosis

Sottilotta

Siboni

Latella

et al. 2009

Clin Appl Thromb Hemost

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“…The authors acknowledged that this result was probably confounded by the small sample sizes, the lack of age adjustment and the type of patient cohorts found in the reviewed studies [13]. While some subsequent case-control studies more often found MTHFR homozygotes and/or high homocysteine levels amongst RVO cases compared to controls [40,41], others did not [12,42,43,44,45]. …”

Section: Discussionmentioning

confidence: 99%

“…The fact that a vein is implicated led to investigations of the potential role of thrombophilia factors in the pathogenesis of CRVO, albeit with conflicting results [3,4,5,6,7,8,9,10,11,12]. A 2005 meta-analysis only found a significant association between hyperhomocysteinemia (odds ratio (OR) 8.9, 95% confidence interval (CI) 5.7-13.7), anticardiolipin antibodies (ACA) (OR 3.9, 95% CI 2.3-6.7), and retinal vein occlusion (RVO) [13].…”

Section: Introductionmentioning

confidence: 99%

Thrombophilia in Patients with Retinal Vein Occlusion: A Retrospective Analysis

2014

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Background: To assess the prevalence of thrombophilia in patients with central (CRVO) and branch retinal vein occlusion (BRVO). Methods: In 139 patients with CRVO (n = 88) and BRVO (n = 51) and in 40 healthy controls factor VIII, fibrinogen, antithrombin III, protein C, protein S, activated protein C resistance, anticardiolipin antibodies (ACA), homocysteine, factor V Leiden, prothrombin G20210A and methylene tetrahydrofolate reductase (MTHFR) C677T mutation were assessed retrospectively. Results: Elevated factor VIII activity and the homozygous MTHFR C677T mutation were significantly more often found in CRVO and BRVO cases compared to controls. Age-, gender- and C-reactive protein-adjusted logistic regression analysis did not show a significant additive effect of elevated factor VIII activity on the risk of developing CRVO/BRVO. Elevated fibrinogen levels and ACA were significantly more often found in CRVO than amongst controls. No significant differences were found concerning the remaining variables. Conclusions: We suggest elevated fibrinogen levels, ACA and the homozygous MTHFR C677T mutation as potential risk factors for CRVO/BRVO.

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“…Screening for thrombophilia in patients where these factors have been excluded, seem to be somewhat controversial in that they leave a question concerning the association of RVO and hereditary thrombophilial abnormalities unanswered. Various coagulation disorders induced by genetic mutations (antithrombin III gene mutations, protein C and protein S deficiencies, factor V Leiden mutation, or MTHFR mutations) are often associated with an increased risk for both systemic and retinal vein occlusion [14][15][16][17][18][19][20][21].…”

Section: Methodsmentioning

confidence: 99%

Can Heterozygosity of MTHFR and Hyperhomocysteinemia be Risk Factors for Both Retinal/Vitreal Hemorrhages in Retinal Vasculitis and Retinal Vein Occlusion?

Paovic¹,

Paović²,

Sredovic³

et al. 2015

IMMU

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Retinal vein occlusion (RVO) is one of the most common vascular diseases of the eye and a frequent cause of severe visual loss. It is multifactorial in origin with both local factors and systemic diseases being of etiological importance. Many thrombophilic conditions have recently been identified and studies looking at their potential role in RVO have been undertaken. The aim of this study was to investigate the role of methylenetetrahydrofolate reductase (MTHFR) heterozigosity associated with normal homocysteine level in blood as risk factor for thromboembolic retinal/vitreal manifestations in patients with retinal vasculitis (RV) and RVO where the other risk factors (such as hypertension; atherosclerosis; diabetes; antiphospholipid syndrome) are excluded. Second question was if anticoagulation treatment should be applied together with systemic corticosteroids and/ immunosuppressive therapy? Results obtained from the examined group showed that heterozigosity for MTHFR C677T gene is of statistical significance and correlates with raised values of homocysteine (correlation coefficient = 0.23). At the same time increased levels of homocysteine correlate (correlation coefficient = 0.01) with appearance of RVO. At r = 0.67, if there is no RV present, existence of a single mutated allele for MTHFR C677T gene does not correlate with RVO. There is however significant correlation between the mutation for MTHFR and hemorrhagic type of RV associated with RVO and/ with isolated hemorrhagic vasculitis without RVO (correlation coefficient = 0.33; correlation coefficient = 0.27; respectively).

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Thrombophilic mutations and risk of retinal vein occlusion

Abstract: Arq Bras Oftalmol. 2007;70(6):971-4 Mutações trombofílicas e risco de oclusão venosa retinianaStudy carried out at

Cited by 23 publications

References 37 publications

Hyperhomocysteinemia and C677T MTHFR Genotype in Patients With Retinal Vein Thrombosis

Hyperhomocysteinemia and C677T MTHFR Genotype in Patients With Retinal Vein Thrombosis

Thrombophilia in Patients with Retinal Vein Occlusion: A Retrospective Analysis

Can Heterozygosity of MTHFR and Hyperhomocysteinemia be Risk Factors for Both Retinal/Vitreal Hemorrhages in Retinal Vasculitis and Retinal Vein Occlusion?

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