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Juvenile-onset open-angle glaucoma – A clinical and genetic update
Survey of Ophthalmology ( IF 5.1 ) Pub Date : 2021-09-16 , DOI: 10.1016/j.survophthal.2021.09.001
Harathy Selvan 1 , Shikha Gupta 1 , Janey L Wiggs 2 , Viney Gupta 1
Affiliation  

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.



中文翻译:


青少年发病的开角型青光眼——临床和遗传更新



青少年发病的开角型青光眼 (JOAG) 是原发性开角型青光眼的一个亚型,在 40 岁之前被诊断出来。该疾病可能是家族性的,也可能是非家族性的,不同人群的比例有所不同。肌纤蛋白突变是最常见的相关突变。 JOAG的特点是高眼压(IOP),许多患者需要手术。诊断时的平均年龄为三十几岁,其中男性占多数。近视是一种常见的关联。该疾病的病理生理学是传统流出途径的不成熟,这可能会或可能不会在前房角镜检查和眼前段光学相干断层扫描中观察到。独特的视神经乳头特征包括具有与高眼压引起的损伤相关的深而陡的杯形的大视盘。 JOAG 患者的进展率与成人原发性青光眼相当,但由于该疾病影响年轻患者,因此该疾病的预计残疾率更高。早期诊断、及时管理和终身监测在预防疾病进展方面发挥着重要作用。目前正在研究的基因疗法带来了未来的希望。

更新日期:2021-09-16
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