在先天性腔内光盘异常中严重的巨病变:一个病例系列
Jenna Krivit1, Gregor S Reiter1,2, Run Zhou Ye1
1Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.
American journal of ophthalmology case reports
|November 26, 2025
概括
这项研究描述了一家具有遗传性洞腔光盘异常 (CODA) 和相关的血清性黄斑病的家庭. 在受影响个体中发现了MMP19上游的遗传三倍化.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 医疗成像医学成像
背景情况:
- 洞腔视盘异常 (CODA) 是一种罕见的先天性疾病,影响视神经头部.
- 血清性黄斑病可能与各种视神经疾病有关,影响中央视力.
研究的目的:
- 描述CODA家族病例与相关的血清性黄斑病变.
- 为了调查CODA在这个家族中的遗传基础.
主要方法:
- 追溯观察案例系列涉及两个相关患者.
- 分析包括图表审查,多式成像和全基因组测序.
- 专注于识别与CODA和黄斑病相关的遗传变异.
主要成果:
- 在两个受影响的个体中,确定了MMP19基因上游的非编码三倍化.
- 患者1 (23M) 呈现了CODA,血清性视网膜脱落和MMP19的三倍化.
- 患者2 (46F),母亲,有视孔病史和已解决的血清性黄斑病,也携带MMP19的三倍化.
结论:
- 这一案例系列突出显示了遗传性CODA与相关的血清性黄斑病变.
- 一个新的遗传发现,MMP19上游的三倍化,与这种情况有关.
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