勒伯遗传性视神经病变呈现为双边视力损失和白质疾病
Hussein Algahtani1,2,3, Bader Shirah4, Angham Abdulrhman Abdulkareem5,6
1Neurology Section, Department of Medicine, King Abdulaziz Medical City, Jeddah, Saudi Arabia.
Bioinformation
|October 9, 2023
概括
勒伯遗传性视神经病 (LHON) 是一种罕见的线粒体疾病,在年轻人中导致视力丧失. 这个案例突出了LHON的亮点.
科学领域:
- 眼科和遗传学 眼科和遗传学
- 神经眼科神经眼科
- 线粒体疾病 线粒体疾病
背景情况:
- 勒伯遗传性视神经病变 (LHON) 是一种罕见的,由母亲遗传的线粒体疾病.
- 它主要影响年轻的成年男性,导致亚急性,渐进的双边视力丧失.
- 由于症状重叠与脱髓化视神经病变,LHON经常被误诊.
研究的目的:
- 提出一个具有挑战性的LHON.案例.
- 强调在视觉神经病变的差异诊断中考虑LHON的重要性.
- 突出诊断挑战和LHON.的遗传基础 (MT-CO3变种).
主要方法:
- 病例报告详细介绍了临床表现和诊断工作.
- 基因分析以确定致病突变.
- 对区分LHON与其他视神经病变的临床特征的审查.
主要成果:
- 患者出现了最初被误诊为脱髓化疾病的症状.
- 基因测试揭示了MT-CO3基因中的同质体变异,证实了LHON.
- 他们注意到LHON的关键差异化特征,如缺乏MRI增强和男性占主导地位.
结论:
- 在不明原因的视神经病变的情况下,LHON需要仔细考虑,特别是在年轻男性中.
- 基因检测对于准确诊断至关重要.
- 区分LHON与脱髓化疾病对于适当的管理和遗传咨询至关重要.
相关概念视频
Photoreceptors and Visual Pathways
6.1K
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
6.1K
Prosopagnosia
191
Prosopagnosia, also known as face blindness, is the inability to recognize faces. In severe cases, individuals with prosopagnosia may not recognize close family members, including parents and spouses, by their faces. For instance, someone with prosopagnosia might walk past their child in a crowd, only realizing their mistake upon noticing their child's distinctive backpack or favorite jacket. Prosopagnosia specifically impairs facial recognition, while the recognition of other objects or...
191
Glaucoma: Overview
604
Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
604


