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病例报告:由线粒体MT-TL1基因m.3243A>G突变引起的异常瞳孔

Yujing Li^1,2, Yihong Ding^1,2, Enzhong Jin^1,2

¹Department of Ophthalmology, Peking University People's Hospital, Beijing, China.

Frontiers in pediatrics

|September 8, 2025

概括

m.3243A>G突变是一种常见的线粒体DNA缺陷,可以导致婴儿的虹膜异常. 这一发现扩大了与这种突变相关的已知眼部征兆,有助于早期眼部查.

科学领域:

遗传学遗传学是一个
眼科医生眼科眼科
线粒体疾病线粒体疾病

背景情况:

在MT-TL1基因中的m.3243A>G突变是最常见的线粒体DNA突变.
这种突变与MELAS (线粒体脑病变,乳酸和类似中风的发作) 综合征有关,包括各种系统和眼部表现.
眼部症状包括白内障,,眼外肌肉麻和视网膜色素炎,视网膜色素炎是最常见的.

研究的目的:

在患有m.3243A>G线粒体DNA突变的婴儿中报告眼部表现.
要突出与这种突变相关的新眼睛发现.

主要方法:

基因检测发现了10个月大的婴儿的m.3243A>G突变,该婴儿的发育迟缓.
进行了全面的眼科检查,包括度测量,循环折射,前段评估, fundus检查和光素血管造影.

主要成果:

眼部检查发现了显著的折射误差和虹膜异常,包括一个眼睛缺失的虹膜和另一只眼睛的状瞳孔.
眼内压力处于正常范围内,眼底检查显示透明的光学盘,杯与盘的比率为0.3.
光素血管造影证实了完整的视网膜,没有外周血管泄漏.

结论:

该研究报告说,m.3243A>G突变的婴儿患有虹膜缺陷,扩大了眼睛征兆的范围.
这些发现强调了对患有这种线粒体DNA突变的婴儿进行全面眼睛查的重要性.

关键词:

在MT-TL1基因中,婴儿婴儿婴儿婴儿虹膜缺陷是一种虹膜缺陷.m.3243A>G 突变的发生.眼部查是指眼部的查.

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