Von Hipple-Lindau disease complicated with central retinal vein occlusion: a case report.
Von Hipple-Lindau disease complicated with central retinal vein occlusion: a case report.
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Von Hipple-Lindau 病并发视网膜中央静脉阻塞一例
DOI：
10.1186/s12886-022-02661-y
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发表时间：
2022-11-16
影响因子：
2
通讯作者：
Cai, Shanjun
中科院分区：
文献类型：
--
作者：
Chen, Xingwang;Wang, Mengyao;Tang, Yuan;Xie, Bing;Nie, Xiaomei;Cai, Shanjun
关键词：
视网膜中央静脉阻塞（CRVO）是冯·希佩尔 - 林道（VHL）病的一种罕见并发症。本报告介绍了首例由VHL c.208G＞A突变导致的VHL病并发CRVO的病例。
一名20多岁的男性，左眼视力在半年内逐渐下降。左眼视力为指数。眼底检查显示，除了视网膜静脉迂曲扩张和视网膜火焰状出血等典型的CRVO体征外，还发现了视网膜血管母细胞瘤。全身检查发现肝脏肿瘤、脑梗死和红细胞增多症，骨髓涂片证实了红细胞增多症的诊断。此外，家族史和基因分析均表明该患者患有由VHL c.208G＞A导致的VHL病。在该患者中，由于VHL病，大量骨髓红细胞增殖，导致血液黏度增加和红细胞与血管黏附，造成视网膜中央静脉血流阻塞，最终导致CRVO。针对CRVO及其致病因素红细胞增多症，患者接受了视网膜激光光凝术和静脉放血治疗。经过1年的随访，左眼视力提高到0.2 logMAR。
这是一例VHL病患者中红细胞增多症并发CRVO的罕见病例。它提醒我们，在诊断年轻的CRVO患者时应充分考虑全身性疾病因素，且治疗需要医生们的协同努力。
Central Retinal Vein Occlusion (CRVO) is a rare complication of von Hipple-Lindau (VHL) disease. This report presents the first case of VHL disease complicated with CRVO caused by VHL c.208G > A mutation. A 20 s man whose left eye visual acuity gradually declined for half a year. The visual acuity of the left eye is counting fingers. Fundus examination revealed that retinal hemangioblastoma was also found in addition to typical CRVO signs such as tortuous expansion of retinal veins and flame-shaped hemorrhage of the retina. Liver tumor, cerebral infarction and erythrocytosis were found during systemic examination, and the diagnosis of polycythemia was confirmed by bone marrow smear. Furthermore, both family history and genetic analysis indicated that the patient had VHL disease caused by VHL c.208G > A. In this patient, a large number of bone marrow erythrocytes proliferated due to VHL disease, which led to the increase of blood viscosity and erythrocyte vascular adhesion, resulting in the obstruction of central retinal vein blood flow, and finally CRVO. For CRVO and its pathogenic factor polycythemia, patient received laser retinal photocoagulation and phlebotomies. After a 1-year follow-up, the vision in the left eye improved to 0.2 logMAR. This is a rare case of polycythemia complicated by CRVO in patient with VHL disease. It reminds us that the systemic disease factors should be fully considered in the diagnosis of young patients with CRVO, and that treatment requires a coordinated effort of physicians.
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影响因子：
3.7
作者：
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通讯作者：
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影响因子：
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影响因子：
4.6
作者：
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通讯作者：
Jung M
影响因子：
10.4
作者：
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通讯作者：
Wautier, J. -L.
影响因子：
4.5
作者：
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通讯作者：
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