Nagy Valeria, Facsko Andrea, Takacs Lili, Balazs Erzsebet, Berta Andras, Balogh Istvan, Edes Istvan, Czuriga Istvan, Pfliegler Gyorgy
Department of Ophthalmology, Medical and Health Science Centre, University of Debrecen, Debrecen, Hungary.
Acta Ophthalmol Scand. 2004 Apr;82(2):140-3. doi: 10.1111/j.1600-0420.2004.00226.x.
Protein C is a major component of the natural anticoagulant pathway. Resistance of coagulation factor V (FV) to activated protein C (APC), mostly due to FV Leiden mutation, is the most common cause of inherited thrombophilia. The aim of this retrospective study was to determine the prevalence of APC resistance and Leiden mutation in patients with non-arteritic anterior ischaemic optic neuropathy (NAION).
A total of 25 patients with NAION were examined between 1997 and 2002. The patients were screened for APC resistance and FV Leiden mutation as well as for acquired risk factors of vascular disease such as diabetes mellitus, hypercholesterolaemia, hypertonia and ischaemic heart disease. A control group of subjects without ocular vascular disease and with homogenous distribution of the same risk factors was used for comparison.
Six of the 25 patients (24%) with NAION had APC resistance due to the heterozygous Leiden mutation of FV. The frequency of the same genetic mutation in the control group was only 5.9%. Odds ratio calculations showed that patients with the Leiden mutation were at a significantly higher risk of NAION than control patients (p < or = 0.021).
The high frequency of Leiden mutation in NAION suggests a pathogenic role of the mutation in the disease.
蛋白C是天然抗凝途径的主要成分。凝血因子V（FV）对活化蛋白C（APC）的抵抗，主要由于FV Leiden突变，是遗传性血栓形成倾向最常见的原因。这项回顾性研究的目的是确定非动脉性前部缺血性视神经病变（NAION）患者中APC抵抗和Leiden突变的患病率。
1997年至2002年期间共检查了25例NAION患者。对患者进行了APC抵抗、FV Leiden突变以及血管疾病的后天危险因素如糖尿病、高胆固醇血症、高血压和缺血性心脏病的筛查。使用一组无眼部血管疾病且相同危险因素分布均匀的对照组进行比较。
25例NAION患者中有6例（24%）由于FV杂合Leiden突变而存在APC抵抗。对照组中相同基因突变的频率仅为5.9%。优势比计算表明，Leiden突变患者患NAION的风险显著高于对照组患者（p≤0.021）。
NAION中Leiden突变的高频率表明该突变在疾病中起致病作用。
