PDF(Pubmed)
Abstract：
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.
摘要：
幼年性开角型青光眼（JOAG）是原发性开角型青光眼的一个子集，在40岁之前被诊断出来。该疾病可以是家族性或非家族性的。不同人群的比例不同。Myocilin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。诊断时的平均年龄是在第三个十年，具有男性优势。近视是一种常见的关联。该疾病的病理生理学是常规流出途径的不成熟，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观察不到。独特的视神经头特征包括深的大椎间盘，与高眼压引起的损伤相关的陡峭拔罐。JOAG患者的进展率与成人原发性青光眼相当，但是由于这种疾病会影响年轻患者，这种疾病的预计残疾更高。早期诊断,管理迅速,和终身监测在预防疾病进展中起着重要作用。目前正在研究的基因疗法为未来提供了希望。
