与POC1B相关的杆形与双边光盘胀:一个新的临床观察
Noha Bamardouf1, Abdulrahman Alsaidi2, Faeeqah Almhmoudi3
1College of Medicine, King Abdul-Aziz University, Jeddah, Saudi Arabia.
American journal of ophthalmology case reports
|November 26, 2025
概括
基因检测显示POC1B基因突变导致形和形棒变. 两名患者表现出罕见的光盘胀,扩大了POC1B相关视网膜病变的已知症状.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 圆和圆杆缩症 (COD/CORD) 是一种遗传性视网膜疾病,主要影响圆光受体.
- POC1 中心蛋白B (POC1B) 基因的突变与这些疾病的自体相衰退形式有关.
- 与POC1B相关的视网膜病变的表型谱仍在被阐明.
研究的目的:
- 描述一组基因确诊的和杆变性病的患者.
- 调查POC1B突变与临床表现之间的关联,包括视盘胀.
- 扩大对POC1B相关的视网膜病变表型的理解.
主要方法:
- 进行了基因分析,以确定受影响家庭中POC1B基因的变异.
- 临床评估包括 fundus 检查,光学连贯性断层扫描 (OCT) 和全场电网膜扫描 (ERG).
- 桑格测序用于验证已识别的致病变异.
主要成果:
- 确定了两个具有自体逆向遗传模式的家族,每个家族都有不同的病原性POC1B变体 (无意义和框架转移).
- 在一个家庭中,受影响的兄弟姐妹出现了圆功能障碍和双侧视盘胀.
- 在第二个家庭中,受影响的兄弟姐妹表现出早期的视力丧失,光恐惧症和形功能障碍,而光盘没有胀.
结论:
- 在POC1B中发生的突变已被证实是形和形棒变的原因.
- 双边光盘胀是一种罕见但可能的POC1B相关视网膜病变的表现.
- 这些发现扩大了POC1B相关的视网膜疾病的临床范围.
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