一名患有CAPN5相关的新血管炎症性玻璃色素变异症的患者的双边黄斑孔
Yong Je Choi1, Se Joon Woo1, Kwangsic Joo2
1Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, 173-82 Gumi-ro, Bundang-gu , Seongnam-si, Gyeonggi-do, 13620, South Korea.
Documenta ophthalmologica. Advances in ophthalmology
|September 5, 2023
概括
一种CAPN5基因变异导致一种独特的新血管炎症性玻璃色素病变 (NIV),呈现为视网膜炎和斑点洞. 基因检测对于诊断这种具有可变临床表现的疾病至关重要.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 视网膜疾病 视网膜疾病
背景情况:
- 神经血管炎症性视网膜病变 (NIV) 是一种影响视网膜的罕见疾病.
- CAPN5基因突变与某些形式的NIV有关.
- 了解基因型-表型相关性对于诊断和管理至关重要.
研究的目的:
- 要表征一个患有CAPN5相关NIV的患者的基因型和表型.
- 为了研究患有CAPN5致病变体的患者的临床过程,该患者患有斑点孔.
- 要突出 CAPN5-NIV. 的黄斑孔的手术结果.
主要方法:
- 研究了一名患有视网膜色素炎和后膜炎的患者.
- 使用向基因小组进行基因测试,确定了CAPN5变异.
- 使用眼科成像技术,包括 fundus 摄影和 OCT.
主要成果:
- 在CAPN5基因中发现了一种单基因致病变体 (c.750G>T,p.Lys250Asn),诊断出CAPN5-NIV.
- 患者在5年内出现了外周视网膜退化,后部卵膜炎和双边黄斑孔.
- 在切除玻璃管术后,可以成功地关闭黄斑孔,而不会导致紫外炎的恶化.
结论:
- 一种CAPN5致病变体可以导致明显的视网膜炎色素炎,脑膜炎和黄斑洞的表型,有时没有典型的新血管化.
- CAPN5-NIV的临床表现是可变的.
- 遗传诊断对于非典型的视网膜炎染色体病例,呈现双边黄斑孔的遗传诊断很重要.
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