视网膜血管病变的病例与大脑白血脑病变以及系统性表现
Musharaf Khan1, Subtain Ali1, Bushra Sayeed2
1Department of Neuroradiology, Rockefeller Neuroscience Institute, West Virginia University, Morgantown, WV, USA.
Radiology case reports
|August 12, 2025
概括
视网膜血管病与大脑白内障病 (RVCL) 是一种罕见的影响血管的遗传疾病. 早期诊断至关重要,以避免误诊,例如将其误认为质瘤.
科学领域:
- 遗传学和神经学 遗传学和神经学
- 血管生物学 血管生物学
背景情况:
- 视网膜血管病变与大脑白脑病变 (RVCL) 是一种罕见的自体主导性疾病.
- 由TREX1基因突变引起,它影响中小动脉和静脉.
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