Juvenile-onset open-angle glaucoma - A clinical and genetic update.
Juvenile-onset open-angle glaucoma - A clinical and genetic update.
复制标题
青少年发病的开角型青光眼-临床和遗传学的最新进展。
DOI：
10.1016/j.survophthal.2021.09.001
复制
发表时间：
2022-07
影响因子：
5.1
通讯作者：
Gupta, Viney
中科院分区：
文献类型：
--
作者：
Selvan, Harathy;Gupta, Shikha;Wiggs, Janey L.;Gupta, Viney
关键词：
青少年发作性开角型青光眼(JOAG)是40岁前确诊的原发开角型青光眼的一个亚型。这种疾病可以是家族性的，也可以是非家族性的，其比例在不同的人群中有所不同。霉菌素突变是最常见的相关基因。JOAG的特点是眼压高，许多患者需要手术。确诊时的平均年龄在第3个十年，以男性为主。近视是一种常见的联想。这种疾病的病理生理学基础是传统的流出途径不成熟，这在房角镜和眼前段光学相干断层扫描中可能观察到，也可能没有观察到。独特的视神经头特征包括大的视盘，深而陡峭的拔罐与高眼压引起的损伤有关。JOAG患者的进展率与成人原发青光眼相当，但由于这种疾病影响较年轻的患者，这种疾病预计的残疾程度更高。早期诊断、及时处理、终身监测在预防疾病进展中起着重要作用。目前正在研究的基于基因的疗法带来了未来的希望。
Juvenile-onset open-angle glaucoma (JOAG) is a subset of primary open-angle glaucoma that is diagnosed before 40 years of age. The disease may be familial or non-familial, with proportions varying among different populations. Myocilin mutations are the most commonly associated. JOAG is characterized by high intraocular pressures (IOP), with many patients needing surgery. The mean age at diagnosis is in the 3rd decade, with a male preponderance. Myopia is a common association. The pathophysiology underlying the disease is immaturity of the conventional outflow pathways, which may or may not be observed on gonioscopy and anterior segment optical coherence tomography. The unique optic nerve head features include large discs with deep, steep cupping associated with high IOP-induced damage. Progression rates among JOAG patients are comparable to adult primary glaucomas, but as the disease affects younger patients, the projected disability from this disease is higher. Early diagnosis, prompt management, and life-long monitoring play an important role in preventing disease progression. Gene-based therapies currently under investigation offer future hope.
登录
查看更多内容
影响因子：
2
作者：
Chen X;Wang X;Hu X;Sun X
通讯作者：
Sun X
影响因子：
1.6
作者：
Abdelrahman, Ahmed M.;Eltanamly, Rasha M.;Hassan, Lameece M.
通讯作者：
Hassan, Lameece M.
影响因子：
1.2
作者：
Abu-Amero, Khaled K.;Morales, Jose;Edward, Deepak P.
通讯作者：
Edward, Deepak P.
影响因子：
13.7
作者：
Ah-Chan, JJ;Molteno, ACB;Herbison, P
通讯作者：
Herbison, P
DOI：
10.1016/j.jcjo.2017.12.013
发表时间：
2018-10-01
影响因子：
4.2
作者：
Arora, Sourabh;Maeda, Masahiro;Damji, Karim F.
通讯作者：
Damji, Karim F.