Retinal vein Occlusion and Factor V Leiden and Prothrombin 20210 G:A Mutations

Aras, Selda; Yılmaz, Gürsel; Alpas, İdil; Baltacı, Volkan; Tayanc, Evren; Aydin, Pınar

doi:10.1177/112067210101100406

Cited by 19 publications

(9 citation statements)

References 26 publications

(37 reference statements)

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“…However, no differences in the frequency of the Factor V G1691A polymorphism between RVO cases and controls were reported in studies of Turkish populations [ 22 , 32 , 36 ]. Janssen et al performed a meta-analysis of 12 studies [ 12 , 13 , 17 , 22 , 27 , 33 , 34 , 39 , 41 , 42 , 46 , 47 ] and found that the Factor V Leiden mutation (G/A+A/A) was associated with an increased risk of RVO [ 48 ]. Rehak et al performed a meta-analysis of 18 studies [ 13 , 14 , 17 , 19 , 22 , 29 , 31 , 34 , 37 , 40 – 42 , 47 , 49 – 53 ] and reported similar results [ 52 ].…”

Section: Discussionmentioning

confidence: 99%

“…Janssen et al performed a meta-analysis of 12 studies [ 12 , 13 , 17 , 22 , 27 , 33 , 34 , 39 , 41 , 42 , 46 , 47 ] and found that the Factor V Leiden mutation (G/A+A/A) was associated with an increased risk of RVO [ 48 ]. Rehak et al performed a meta-analysis of 18 studies [ 13 , 14 , 17 , 19 , 22 , 29 , 31 , 34 , 37 , 40 – 42 , 47 , 49 – 53 ] and reported similar results [ 52 ]. Finally, Yioti et al performed a meta-analysis of 21 case-control studies [ 11 – 14 , 16 – 19 , 21 – 23 , 28 , 29 , 33 , 34 , 37 , 41 , 42 , 51 , 53 , 54 ] and demonstrated that the Factor V Leiden mutation was associated with an increased risk of RVO [ 11 ].…”

Section: Discussionmentioning

confidence: 99%

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Factor VG1691A is associated with an increased risk of retinal vein occlusion: a meta-analysis

Zou

Zhang

et al. 2017

Oncotarget

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We performed a meta-analysis to investigate the association between the Factor V G1691A polymorphism and the risk of retinal vein occlusion (RVO). This analysis included 37 studies involving 2,510 cases and 3,466 controls. Factor V G1691A was associated with an increased risk of RVO in the allele, heterozygote, dominant, and carrier models (PA < 0.001, odds ratios >1), but not the homozygote or recessive models (PA > 0.05). Similar results were observed in a meta-analysis of central retinal vein occlusion (CRVO) and when comparing Caucasian subgroups to population-based controls. These data demonstrate that the G/A genotype of Factor V G1691A is associated with an increased risk of RVO/CRVO in a Caucasian population.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Factor VG1691A is associated with an increased risk of retinal vein occlusion: a meta-analysis

Zou

Zhang

et al. 2017

Oncotarget

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“…32 , 40 – 43 Recent studies have found a high prevalence of FVL 21 , 24 , 26 – 28 and PTG mutations 58 , 59 in patients with OVO versus controls; however, some have not found the same. 16 , 29 , 30 – 32…”

Section: Discussionmentioning

confidence: 99%

Diagnostic ramifications of ocular vascular occlusion as a first thrombotic event associated with factor V Leiden and prothrombin gene heterozygosity

Schockman¹,

Glueck²,

Hutchins³

et al. 2015

OPTH

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AimThis study aimed to assess the diagnostic ramifications of vascular occlusion of the ocular vein and artery as a first thrombotic event associated with factor V Leiden (FVL) and/or prothrombin gene (PTG) heterozygosity.MethodsPatients with ocular vein (n=191) and artery (n=74) occlusion, free of cardioembolic etiologies, were sequentially referred from vitreoretinal specialists for measurement of thrombophilia-hypofibrinolysis and compared to 110 healthy normal controls.ResultsOf the 265 patients, 29 (11%; 17 women, 12 men) of all referred ocular vascular occlusion (OVO) cases were found to be heterozygous for FVL and/or PTG, including 16 with FVL, 12 with PTG, and 1 with both. Of the 29 cases, 16 had central retinal vein occlusion (CRVO), 2 branch retinal vein occlusion (BRVO), 5 nonarteritic anterior ischemic optic neuropathy (NA-AION), 3 retinal artery occlusion (RAO), 2 amaurosis fugax (AF), and 1 had both CRVO and RAO. Of the 16 FVL cases, 15 (94%) had OVO as a first thrombotic event without prior deep venous thrombosis (DVT) or pulmonary embolism (PE); 6 (38%) also had other thrombotic events, including recurrent miscarriage, osteonecrosis, ischemic stroke, and/or ischemic colitis; and 5 (31%) had immediate family members with previous venous thromboembolism (VTE). Of the 12 PTG cases, 9 (75%) had OVO as a first thrombotic event, 5 (42%) experienced VTE other than DVT or PE, and 6 (50%) had immediate family members with VTE. In one patient with both FVL and PTG, DVT occurred before BRVO. Of the 17 women with FVL and/or PTG mutations, 7 (41%) experienced ≥1 miscarriage, 6 (35%) were on estrogen therapy, and 1 (6%) was on clomiphene.ConclusionOf the 265 patients with OVO, 29 (11%) had FVL and/or PTG, and 83% of these 29 cases presented with OVO as their first thrombotic event. By diagnosing thrombophilia as an etiology for OVO, the ophthalmologist opens a window to family screening and preventive therapy.

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“…The frequency of thrombophilic mutations in patients presenting RVO in previous studies range from 0% to 17% for the factor V Leiden (16)(17)(18)(19)(20) , from 0% to 10% for PT 20210A (16,19,(21)(22)(23)(24) and from 3% to 19% for MTHFR 677TT (25)(26)(27)(28)(29)(30) . These differences may be related to the racial background, selection of the control group, and study design.…”

Section: Discussionmentioning

confidence: 99%

“…Studies investigating the presence of activated protein C resistance or factor V Leiden have suggested their potential role in RVO (16,25,29) . Recently, a study (31) also suggested that the presence of factor V Leiden increases the risk of neo-vascular complications in patients presenting central RVO.…”

Section: Discussionmentioning

confidence: 99%

Thrombophilic mutations and risk of retinal vein occlusion

Biancardi¹,

Gadelha²,

Borges³

et al. 2007

Arq. Bras. Oftalmol.

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Retinal vein Occlusion and Factor V Leiden and Prothrombin 20210 G:A Mutations

Abstract: There was no significant association between retinal vein occlusion and the factor V Leiden mutation.

Cited by 19 publications

References 26 publications

Factor VG1691A is associated with an increased risk of retinal vein occlusion: a meta-analysis

Factor VG1691A is associated with an increased risk of retinal vein occlusion: a meta-analysis

Diagnostic ramifications of ocular vascular occlusion as a first thrombotic event associated with factor V Leiden and prothrombin gene heterozygosity

Thrombophilic mutations and risk of retinal vein occlusion

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