一名患有视网膜小动脉迂曲综合征患者的凝血因子VII缺乏症。
Factor VII deficiency in a patient with retinal arteriolar tortuosity syndrome.
作者信息
Zadok D, Levi Y, Zehavi H, Rahimi-Levene N, Nemet P, Kornberg A
机构信息
Department of Ophthalmology, Assaf Harofeh Medical Center, Zerifin, Israel.
出版信息
Eye (Lond). 2000 Oct;14 Pt 5:721-3. doi: 10.1038/eye.2000.191.
PURPOSE
To report a pedigree with hereditary retinal arteriolar tortuosity with macular haemorrhage and abnormality of the coagulation system.
METHODS
Case report and literature review.
RESULTS
A 49-year-old woman was referred due to macular haemorrhage in both eyes. Her 16-year-old son had recurrent retinal haemorrhages which presented at age 16 years and had mild retinal arteriolar tortuosity. Coagulation studies in the son revealed normal activated partial thromboplastin time (APTT), prolonged prothrombin time (PT) and 30% activity of factor VII.
CONCLUSIONS
Factor VII deficiency may aggravate the haemorrhages in retinal arteriolar tortuosity syndrome. We therefore suggest conducting routine coagulation studies (PT, APTT) in all patients with retinal arteriolar tortuosity syndrome. Determination of factor VII activity is warranted only in patients with normal APTT and prolonged PT.
目的
报告一例伴有黄斑出血和凝血系统异常的遗传性视网膜小动脉迂曲家系。
方法
病例报告及文献复习。
结果
一名49岁女性因双眼黄斑出血前来就诊。她16岁的儿子自16岁起反复出现视网膜出血，伴有轻度视网膜小动脉迂曲。该儿子的凝血检查显示活化部分凝血活酶时间（APTT）正常，凝血酶原时间（PT）延长，因子VII活性为30%。
结论
因子VII缺乏可能会加重视网膜小动脉迂曲综合征中的出血情况。因此，我们建议对所有视网膜小动脉迂曲综合征患者进行常规凝血检查（PT、APTT）。仅在APTT正常且PT延长的患者中进行因子VII活性测定。
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