相关实验视频

Updated: Sep 9, 2025

Full-Circle Cauterization of Limbal Vascular Plexus for Surgically Induced Glaucoma in Rodents

Full-Circle Cauterization of Limbal Vascular Plexus for Surgically Induced Glaucoma in Rodents

Published on: February 15, 2022

长期跟踪青少年开放角眼血统的新 EFEMP1 突变 (c.1313,p.Tyr438Cys)

Brian P Young¹, Angela W Nyunt¹, Molly A Clymer²

¹Institute for Vision Research, University of Iowa, Iowa City, IA, USA; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.

Ophthalmology. Glaucoma

|August 28, 2025

概括

一个新的EFEMP1基因突变p.Tyr438Cys被确定为一个欧洲家庭的青少年开角眼 (JOAG) 的遗传原因. 这种突变导致严重的,早期出现的青光眼现型,需要显著的干预.

科学领域:

眼科眼科
遗传学
分子生物学

背景情况:

青少年开角青光眼 (JOAG) 是一种早期发病的严重青光眼.
鉴定JOAG的遗传基础对于了解疾病机制和开发向治疗至关重要.

研究的目的:

确定多代欧洲血统的JOAG的遗传原因.
调查已识别的遗传变异的致病性.

主要方法:

对受影响个体进行血统分析和临床数据收集.
MYOC的桑格测序和EFEMP1的整个外基因测序.
在病原性评估中,包括突变分析算法,同质分析和结构建模.

主要成果:

没有发现MYOC突变. 在所有受影响的个体中发现了EFEMP1基因的新型异构错误突变 (c.1313A>G,p.Tyr438Cys),但在对照组中没有发现.
该p.Tyr438Cys突变改变了一个保存的氨基酸,多个算法预测它是致病的,并对EFEMP1蛋白造成有害的结构变化.
受影响的个体出现了早期眼 (平均年龄为32.5岁),高眼内压 (平均最大为32. 3mmHg),视野进展迅速,并且需要多次眼手术.

结论:

在EFEMP1中发现的p.Tyr438Cys突变是这一欧洲血统中JOAG的第一个致病突变.
这种突变与具有高内血压和快速进展特征的严重,早期眼现象型有关,需要积极的治疗.
需要进一步研究以阐明JOAG中EFEMP1突变的致病机制,并探索治疗策略.

关键词:

欧洲经济与发展计划含有纤维素细胞外基因蛋白的EGF1 美国青少年视角眼青光眼

更多相关视频

A Model of Glaucoma Induced by Circumlimbal Suture in Rats and Mice

A Model of Glaucoma Induced by Circumlimbal Suture in Rats and Mice

Published on: October 5, 2018

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

相关概念视频

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...

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...