与FDXR相关的疾病的眼部和神经表现
Andrew Kaler1, Natario Couser2
1Virginia Commonwealth University School of Medicine, Virginia, Richmond.
概括
与FDXR相关的疾病是由FDXR基因变异引起的,表现为视力缩和其他眼睛/神经问题. 本综述描述了47名报告患者的共同特征,有助于诊断和管理.
科学领域:
- 遗传学 是一个遗传学.
- 眼科医生 眼科 眼科
- 神经学 神经学
背景情况:
- 与FDXR相关的疾病是由于FDXR基因中的致病变异引起的.
- 到目前为止,已有47名患者报告这种情况.
- 常见的基因型包括同卵性c.1174C>T (p.R392W) 和c.916C>T (p.R306C) 变种.
研究的目的:
- 描述FDXR相关疾病的眼部和神经表现.
- 基于现有文献和新病例,提供临床特征的全面概述.
主要方法:
- 对报告的FDXR相关疾病病例的文献综述.
- 从已发表的数据分析临床特征.
主要成果:
- 光学缩是最常见的眼部发现 (89%).
- 其他常见的眼睛表现包括近视,阴影,视障,视网膜发育不良,视网膜血管减弱和白内障.
- 常见的神经症状包括运动障碍,神经感官听力损失,发育迟缓/回归,以及低血压.
结论:
- 与FDXR相关的疾病除了视力缩之外,还具有不同的眼睛和神经特征.
- 综合性表征有助于了解疾病的范围,并改善患者的护理.
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