一名具有杂合子20210 G/A凝血酶原基因型的易栓症患者发生特发性视网膜中央静脉阻塞。
Idiopathic central retinal vein occlusion in a thrombophilic patient with the heterozygous 20210 G/A prothrombin genotype.
作者信息
Incorvaia C, Lamberti G, Parmeggiani F, Ferraresi P, Calzolari E, Bernardi F, Sebastiani A
机构信息
Department of Ophthalmology, University of Ferrara, Italy.
出版信息
Am J Ophthalmol. 1999 Aug;128(2):247-8. doi: 10.1016/s0002-9394(99)00069-0.
PURPOSE
To report the occurrence of monolateral central retinal vein occlusion in a patient with heterozygous 20210 G/A prothrombin genotype, known to be associated with high thrombophilic risk.
METHODS
A monolateral central retinal vein occlusion was diagnosed in a 71-year-old woman, who had suffered from a deep vein thrombosis in her left leg at the age of 36 years. Mutations of the genes involved in the coagulation process were investigated by DNA polymerase chain reaction.
RESULT
DNA analysis showed the patient to be heterozygous for the prothrombin 20210 G/A genetic variation.
CONCLUSION
The 20210 G/A prothrombin gene mutation may be associated with central retinal vein occlusion.
目的
报告一名患有杂合子20210 G/A凝血酶原基因型的患者发生单侧视网膜中央静脉阻塞的情况，已知该基因型与高血栓形成风险相关。
方法
一名71岁女性被诊断为单侧视网膜中央静脉阻塞，她在36岁时左腿曾患深静脉血栓形成。通过DNA聚合酶链反应研究参与凝血过程的基因的突变情况。
结果
DNA分析显示该患者为凝血酶原20210 G/A基因变异的杂合子。
结论
20210 G/A凝血酶原基因突变可能与视网膜中央静脉阻塞有关。
Zotero 插件