视网膜低成形和退行导致视力丧失在弗里德里希心力衰竭
Layne N Rodden1, Kellie McIntyre1, Medina Keita1
1Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Annals of clinical and translational neurology
|June 19, 2023
概括
弗里德里希 (FRDA) 导致视力丧失,原因是视网膜神经纤维层 (RNFL) 变薄. 早期治疗可以预防关键的RNFL损失,在FRDA患者中保持视力.
科学领域:
- 神经眼科神经眼科
- 遗传学 遗传学 是一个
- 神经学 神经学
背景情况:
- 弗里德里希缺血症 (FRDA) 是一种遗传性神经退行性疾病.
- 它是由GAA三倍重复扩张在FXN基因引起的.
- 临床表现包括动力衰竭,心肌病和视力丧失.
研究的目的:
- 在一大群FRDA患者中描述视力损失特征.
- 调查RNFL厚度,视力敏度和疾病严重程度之间的关系.
- 确定FRDA中RNFL稀薄和视力缺陷的预测因素.
主要方法:
- 光学连贯断层扫描 (OCT) 在198名FRDA患者和77名对照组中测量了周周毛囊视网膜神经纤维层 (RNFL) 厚度.
- 使用斯隆字母图表来评估视觉敏度.
- RNFL厚度和视力敏度与FACOMS的疾病严重程度指标相关.
主要成果:
- 大多数FRDA患者表现出薄型RNFL和低对比度视力缺陷.
- 根据疾病负担 (GAA-TR长度 × 疾病持续时间) 最好预测RNFL厚度变化.
- 当RNFL厚度达到≤68μm时,出现了显著的视力敏度缺陷,RNFL每年减少1.2μm.
结论:
- 在FRDA中,RNFL的低成形和退化都会导致视神经功能障碍.
- 开发早期的,视觉导向的治疗方法对于防止不可逆转的RNFL损失至关重要.
- 在RNFL达到临界值之前进行干预,可以在FRDA患者中保持视力.
相关概念视频
01:22Photoreceptors 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
01:20Anatomy of the Eyeball
7.2K
The eye is a spherical, hollow structure composed of three tissue layers. The outer layer — the fibrous tunic, comprises the sclera — a white structure — and the cornea, which is transparent. The sclera encompasses some of the ocular surface, most of which is not visible. However, the 'white of the eye' is distinctively visible in humans compared to other species. The cornea, a clear covering at the front of the eye, enables light penetration. The eye's middle...
7.2K
00:50Unrenewable Cells
2.3K
In humans, the photoreceptor cells of the eye and sensory hair cells of the ear lack stem cells. These cells are thus unrenewable and cannot be replaced when they are damaged or destroyed.
Photoreceptors
The retina is composed of several layers and contains specialized cells called photoreceptors. The photoreceptors (rods and cones) change their membrane potential when stimulated by light energy. There are two types of photoreceptors—rods and cones—which differ in the shape of...
Photoreceptors
The retina is composed of several layers and contains specialized cells called photoreceptors. The photoreceptors (rods and cones) change their membrane potential when stimulated by light energy. There are two types of photoreceptors—rods and cones—which differ in the shape of...
2.3K
01:20The Retinoblastoma Gene
4.1K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.1K