冠状腺症呈现为视力损失,这是冠状腺新血管化的次要原因
Landon J Rohowetz1, Anne L Kunkler1, Jesse D Sengillo1
1Department of Ophthalmology, Bascom Palmer Eye Institute, Miami, Florida, USA.
Ophthalmic genetics
|August 14, 2023
概括
冠状腺新血管化 (CNV) 在冠状腺症中可能导致视力丧失. 在一个年轻的患者中,intravitreal bevacizumab有效地治疗了神经性肺炎,改善了视力并减少了出血.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 视网膜疾病 视网膜疾病
背景情况:
- 冠状腺新血管化 (CNV) 是一种罕见的冠状腺血症并发症,是一种遗传性疾病.
- 胆血症中的CNV是由视网膜色素表皮缩和布鲁赫膜破裂引起的.
- 胆固醇血症中CNV的管理策略尚未建立.
研究的目的:
- 报告患有未诊断的胆固醇血症的患者胆固醇新血管化病例.
- 在此背景下,评估内贝瓦西祖马布在治疗中枢神经炎症方面的疗效.
主要方法:
- 一个病例报告,一名14岁的男性出现了中部视力损失.
- 诊断工作包括视力敏度测试, fundus 检查,光学连贯性断层扫描和 CHM 基因的遗传测试.
- 治疗涉及一系列的内贝瓦西祖马布注射.
主要成果:
- 这名患者被诊断患有胆固醇,原因是CHM基因上的双半性异构2删除.
- 在静脉内注射贝瓦西祖马布后,脑下内出血得到缓解,中枢神经动脉的大小减少.
- 在受影响的眼睛中,视力敏度从20/70提高到20/20.
结论:
- 冠状腺新血管化是冠状腺症中视力丧失的重要原因.
- 在这种情况下,intravitreal bevacizumab表现出积极的功能和解剖反应.
- 这表明贝瓦西祖马布作为一种潜在的治疗选择,用于冠状腺血中NV.
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