METTL23变体和患有正常压力玻璃眼的患者
Todd E Scheetz1,2, Mallory R Tollefson3, Ben R Roos1,2
1Institute for Vision Research, University of Iowa, Iowa City.
JAMA ophthalmology
|September 26, 2024
概括
在METTL23基因的致病变体与正常张力玻璃眼 (NTG) 有关. 这项研究在约1%的NTG病例中发现了METTL23变异,类似于其他已知的玻璃眼瘤基因.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
背景情况:
- 正常张力玻璃眼 (NTG) 是一种常见的玻璃眼形式.
- 遗传因素在NTG的发病过程中起着重要作用.
- 以前的研究已经确定了与NTG相关的几种基因,但遗传基础仍然不完全理解.
研究的目的:
- 调查NTG.患者队列中METTL23基因中致病变体的频率.
- 确定METTL23变异是否与发展NTG的风险增加有关.
主要方法:
- 对331名NTG患者和362名对照进行了病例控制研究.
- 参与者从爱荷华大学的诊所招募.
- 排除标准包括创伤史,类固醇使用,或已知绿眼病基因 (MYOC,TBK1,OPTN) 的变异.
主要成果:
- 在3名NTG患者 (0.91%) 中检测到4种独特的METTL23致病变体.
- 其中三种变异被归类为可能致病的.
- 与对照组相比,NTG患者中检测到的METTL23变异的总体频率在统计学上并不高.
结论:
- 在METTL23的致病变体与自身主导的正常张力玻璃眼有关.
- METTL23变异约占NTG病例的1%,与其他已识别的NTG基因相比.
- 这些发现表明,METTL23参与了一种生物学途径,在较低的眼内压力下导致青光眼.
相关概念视频
Open Angle Glaucoma: Treatment
406
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...
Drugs such as carbonic anhydrase inhibitors, α2- and...
406
Glaucoma: Overview
528
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...
528
Angle Closure Glaucoma: Treatment
451
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...
451


