相关实验视频

Updated: Sep 18, 2025

Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential

Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential

Published on: May 25, 2020

视频眼镜作为SCA27B的关键诊断工具:一个现实生活经验

Sarah Coulette¹, Augustin Lecler², Chloé Le Cossec³

¹Department of Neurology, Hôpital Fondation Rothschild, Paris, France.

European journal of neurology

|June 25, 2025

概括

视频眼镜 (VOG) 能够有效地检测脊髓大脑形性形27B型 (SCA27B) 患者的低压性形 (DBN). 4-阿米诺皮里丁 (4-AP) 提供了SCA27B的症状缓解,改善了平衡和动力衰竭症状.

科学领域:

神经学神经学
遗传学遗传学是一个
眼科医生眼科眼科

背景情况:

27B型脊髓小脑动症 (SCA27B) 是一种遗传性疾病,导致晚发性脊髓小脑动症,与FGF14基因GAA重复扩张有关.
低节奏性鼻 (DBN) 是SCA27B的一个公认的标志,需要改进的诊断和监测工具.

研究的目的:

评估视频眼镜 (VOG) 的诊断实用性,用于识别SCA27B.
评估4-aminopyridine (4-AP) 在控制SCA27B症状方面的有效性及其对眼运动功能的影响.

主要方法:

对那些经过临床,MRI,VOG和FGF14-GAA遗传测试的异常发病晚期大脑动症 (ILOCA) 患者的回顾性分析.
在SCA27B携带者和非携带者之间对眼运动特征的比较.
在基线,2个月和8个月使用SARA和VOG治疗4-AP的症状载体的评估.

主要成果:

在35%的受试患者中发现了FGF14-GAA扩张.
在SCA27B携带者 (92%) 和非携带者 (33%) 中,DBN的发生率显著高,通常与目光引起的阴影.
核磁共振扫描没有区分载体. 接受治疗的患者表现出平衡和SARA得分的改善,持续了8个月.

结论:

VOG对于诊断DBN至关重要,这是SCA27B的关键指标,指导有针对性的基因测试.
4-AP证明了作为SCA27B的症状治疗的有效性,改善了运动功能和平衡.

关键词:

在SCA27B中,它是SCA27B.大脑小小脑的无氧.下降节奏的阴影 (nystagmus) 已经开始.运动障碍运动障碍神经遗传学神经遗传学视频眼镜 - 视频眼镜

更多相关视频

Multimodal Volumetric Retinal Imaging by Oblique Scanning Laser Ophthalmoscopy oSLO and Optical Coherence Tomography OCT

Multimodal Volumetric Retinal Imaging by Oblique Scanning Laser Ophthalmoscopy oSLO and Optical Coherence Tomography OCT

Published on: August 4, 2018

In vivo Structural Assessments of Ocular Disease in Rodent Models using Optical Coherence Tomography

In vivo Structural Assessments of Ocular Disease in Rodent Models using Optical Coherence Tomography

Published on: July 24, 2020

相关概念视频

Glaucoma: Overview

Glaucoma: Overview

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...

Open Angle Glaucoma: Treatment

Open Angle Glaucoma: Treatment

In open-angle glaucoma, the iridocorneal angle remains open, but the trabecular meshwork becomes stiff, slowing down the outflow of aqueous humor. This causes a buildup of aqueous humor in the anterior chamber, leading to a sudden increase in intraocular pressure. The treatment for open-angle glaucoma focuses on reducing the elevated intraocular pressure by either decreasing the secretion of aqueous humor or increasing its outflow.
Drugs such as carbonic anhydrase inhibitors, α2- and...

Angle Closure Glaucoma: Treatment

Angle Closure Glaucoma: Treatment

Angle-closure glaucoma, or closed-angle glaucoma, is an eye condition where the iris bulges out and blocks the iridocorneal angle, resulting in a buildup of aqueous humor and increased intraocular pressure. Immediate medical attention is necessary due to the sudden onset of symptoms. The treatment for angle-closure glaucoma includes short-term and long-term approaches. Short-term treatment involves using eye drops like pilocarpine to lower intraocular pressure by increasing aqueous humor...