Hua Len V, Byrne Erin, Yudcovitch Lorne
Pacific University College of Optometry, Forest Grove, Oregon 97116, USA.
Optom Vis Sci. 2009 Sep;86(9):E1117-26. doi: 10.1097/OPX.0b013e3181b620d3.
We report a rare case of bilateral juvenile open-angle glaucoma (JOAG), with discussion of current understanding of its pathogenesis, differential diagnosis, genetics, and management. The importance of tonometry and dilated fundus examination as essential parts of a complete ocular examination, regardless of patient age, is emphasized.
A Hispanic female teenager presented for an updated eye examination as a requirement before joining military boot camp. Chief concern was blurry vision at distance, with no other reported ocular or systemic problems. She manifested simple myopia in both eyes and was correctable to 20/20 in each eye with glasses. However, intraocular pressure (IOP) in each eye was measured above 40 mm Hg. Subsequent automated perimetry showed significant visual field defects, and laser polarimetry analysis of the optic nerve fibers corresponded with the visual field loss pattern. Maximal medical therapy was administered to lower the IOP, with minimal success. Subsequent incisional trabeculectomy with topical antimetabolite were performed in both eyes to achieve adequate control of her IOPs.
Juvenile-onset Open Angle Glaucoma (JOAG) has been proposed to be a small subset of Primary Open Angle Glaucoma (POAG) and on a continual spectrum of Primary Open Angle Glaucoma. Because most patients with JOAG are asymptomatic, tonometry and optic nerve analysis are crucial in early detection and, thus, must be performed on all patients, young and old. JOAG has a variable onset, with rapidly progressive neuropathy that does not respond well to medical therapy alone, and surgical intervention is often the eventual treatment of choice. Mutations in the myocillin gene have been strongly linked to the disease. JOAG follows an autosomal dominant inheritance with relatively high penetrance. As such, close monitoring, genetics screening, and/or early medical management to prevent irreversible optic neuropathy and blindness should be considered as well for presymptomatic family members.
我们报告一例罕见的双侧青少年开角型青光眼（JOAG）病例，并讨论目前对其发病机制、鉴别诊断、遗传学及治疗的认识。强调无论患者年龄大小，眼压测量和散瞳眼底检查作为完整眼部检查的重要组成部分的重要性。
一名西班牙裔青少年女性因参加军事新兵训练营前需要进行最新眼部检查前来就诊。主要问题是远距离视力模糊，未报告其他眼部或全身问题。她双眼表现为单纯性近视，戴眼镜后每只眼视力可矫正至20/20。然而，测量发现每只眼的眼压均高于40 mmHg。随后的自动视野检查显示有明显的视野缺损，视神经纤维的激光偏振分析与视野缺损模式相符。给予最大程度的药物治疗以降低眼压，但效果甚微。随后双眼均进行了切开小梁切除术并局部应用抗代谢药物，以充分控制眼压。
青少年型开角型青光眼（JOAG）被认为是原发性开角型青光眼（POAG）的一个小亚组，且处于原发性开角型青光眼的连续谱系中。由于大多数JOAG患者无症状，眼压测量和视神经分析对早期检测至关重要，因此必须对所有患者（无论老少）进行检查。JOAG发病情况各异，伴有快速进展的神经病变，仅药物治疗效果不佳，手术干预往往是最终的治疗选择。肌纤蛋白基因突变与该疾病密切相关。JOAG遵循常染色体显性遗传，具有相对较高的外显率。因此，对于无症状的家庭成员，也应考虑密切监测、基因筛查和/或早期药物治疗，以预防不可逆的视神经病变和失明。
