Weger M, Renner W, Pinter O, Stanger O, Temmel W, Fellner P, Schmut O, Haas A
Department of Ophthalmology Karl-Franzens University Graz, Austria.
Eye (Lond). 2003 Aug;17(6):731-4. doi: 10.1038/sj.eye.6700495.
Retinal artery occlusion is a common vision-threatening disease. Among other risk factors, coagulopathies leading to a hypercoagulable state have been associated with retinal artery occlusion. Numerous studies have shown that two genetic variants, factor V Leiden and prothrombin 20210A, cause a procoagulant state. However, their role in the pathogenesis of retinal artery occlusion is still unclear. The purpose of the present study was therefore to investigate a possible association between factor V Leiden, prothrombin 20210A, and retinal artery occlusion.
In the present retrospective case-control study, we studied 136 patients with retinal artery occlusion and 136 age- and gender-matched control subjects. The presence of factor V Leiden and prothrombin 20210A alleles was determined by polymerase chain reaction.
The prevalence of heterozygosity for the prothrombin G20210A variant did not significantly differ between patients and controls (three patients vs two controls, P=0.65). Distribution of factor V Leiden genotypes revealed no significant difference among the two groups (heterozygosity: eight patients vs 11 controls, P=0.47). As for other risk factors, arterial hypertension, a history of stroke and myocardial infarction were significantly more frequent in patients than in controls.
Our data suggest that factor V Leiden and prothrombin 20210A do not play a major role in patients with retinal artery occlusion.
视网膜动脉阻塞是一种常见的威胁视力的疾病。在其他危险因素中，导致高凝状态的凝血障碍与视网膜动脉阻塞有关。大量研究表明，两种基因变异，即因子V莱顿突变和凝血酶原20210A突变，会导致促凝状态。然而，它们在视网膜动脉阻塞发病机制中的作用仍不清楚。因此，本研究的目的是调查因子V莱顿突变、凝血酶原20210A突变与视网膜动脉阻塞之间可能存在的关联。
在本项回顾性病例对照研究中，我们研究了136例视网膜动脉阻塞患者以及136例年龄和性别相匹配的对照者。通过聚合酶链反应确定因子V莱顿突变和凝血酶原20210A等位基因的存在情况。
凝血酶原G20210A变异的杂合子患病率在患者和对照者之间无显著差异（3例患者对2例对照者，P = 0.65）。因子V莱顿基因型的分布在两组之间无显著差异（杂合子：8例患者对11例对照者，P = 0.47）。至于其他危险因素，患者中动脉高血压、中风和心肌梗死病史的发生率显著高于对照者。
我们的数据表明，因子V莱顿突变和凝血酶原20210A在视网膜动脉阻塞患者中不发挥主要作用。
