勒伯遗传性视神经病变与视网膜出血
Yasuyuki Takai1, Akiko Yamagami1,2, Mayumi Iwasa1
1Department of Ophthalmology, Inouye Eye Hospital, Tokyo, Japan.
Neuro-ophthalmology (Aeolus Press)
|March 7, 2025
概括
视网膜出血是急性莱伯遗传性视神经病变 (LHON) 的罕见但重要的发现. 识别这种症状有助于准确诊断这种危及视力的疾病.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 神经眼科神经眼科
背景情况:
- 勒伯遗传性视神经病 (LHON) 是一种线粒体疾病,导致急性视力丧失.
- 典型的急性LHON发现包括视觉盘高血压,周周膜外膜,和RNFL胀.
- 视网膜出血是LHON中不常见的表现.
研究的目的:
- 调查急性阶段LHON患者视网膜出血的发生和特征.
- 为了确定视网膜出血在LHON诊断中的临床意义.
主要方法:
- 在因眼科医院对82例LHON病例 (164只眼睛) 的回顾性分析.
- 临床检查, fundus摄影和线粒体DNA分析.
- 在某些特定情况下,光素血管造影.
主要成果:
- 在82例LHON病例中的5例 (5眼) 观察到视网膜出血.
- 出血位于视网膜神经纤维层 (RNFL),并伴随着典型的LHON光盘迹象.
- 线粒体DNA分析发现了常见的LHON变体 (m.11778G>A和m.14484T>C).
- 光素血管图显示没有异常泄漏,表明非排泄性起源.
结论:
- 视网膜出血,虽然很少见,但可以发生在LHON的急性阶段.
- 在LHON中应识别RNFL出血,不一定表明其他病理.
- 对这种表现的认识有助于区分LHON与其他视神经病变.
相关概念视频
Photoreceptors and Visual Pathways
5.6K
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,...
5.6K
The Retinoblastoma Gene
4.0K
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,...
4.0K
The Retina
67.0K
The retina is a layer of nervous tissue at the back of the eye that transduces light into neural signals. This process, called phototransduction, is carried out by rod and cone photoreceptor cells in the back of the retina.
67.0K
Glaucoma: Overview
493
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...
493
Anatomy of the Eyeball
5.9K
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...
5.9K


