Thrombophilic mutations and risk of retinal vein occlusion

Arquivos Brasileiros de Oftalmologia

Ana Luiza Biancardi¹  Telma Gadelha²  Wander Inturias Sergillo Borges²  Haroldo Vieira De Moraes Jr.²  Nelson Spector² 

[1],Universidade Federal do Rio de JaneiroRio de Janeiro RJ ,Brazil

关键词: Retinal vein occlusion;    Risk factors;    Thrombophilia;    Factor V;    Prothrombin;    Methylenetetrahydrofolate reductase (NADPH2);    Oclusão da veia retiniana;    Fatores de risco;    Trombofilia;    Fator V;    Protrombina;    Metilenotetraidrofolato redutase (NADPH2);   

DOI  :  10.1590/S0004-27492007000600016

来源: SciELO

【 摘 要 】

PURPOSE: The association of retinal vein occlusion and hereditary thrombophilia abnormalities is not established, with controversial results in the literature. This study investigates the association between retinal vein occlusion and three thrombophilic mutations: factor V 1691A (factor V Leiden), prothrombin 20210A (PT 20210A) and homozygous methylenetetrahydrofolate reductase 677T (MTHFR 677TT). METHODS: 55 consecutive retinal vein occlusion patients and 55 controls matched by age, gender and race, were tested for the presence of the following mutations: factor V Leiden, PT 20210A and MTHFR 677TT. The frequencies of the three mutations in cases and controls were compared. RESULTS: Factor V Leiden was found in 3.6% of patients and in 0% of controls; PT 20210A was found in 1.8% of patients and 3.6% of controls, (matched-pair odds ratio, 0.5; 95% confidence interval, 0.04 to 5.51); MTHFR 677TT was found in 9% of patients and 9% of controls (matched-pair odds ratio, 1; 95% confidence interval, 0.92 to 3.45). Arterial hypertension was more frequent in patients than controls (matched-pair odds ratio, 3.4; 95% confidence interval, 1.25 to 9.21). CONCLUSIONS: This study suggests that thrombophilic mutations are not risk factors for RVO. Routine investigation of hereditary thrombophilia in these patients is not justified.

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