Wirtz Mary K, Konstas Anastasios G P, Samples John R, Kaltsos Kostantinos, Economou Athanasios, Dimopoulos Antonios, Georgiadou Irene, Petersen Michael B
Casey Eye Institute, Department of Ophthalmology, Oregon Health & Sciences University, Portland, OR, USA.
Mol Vis. 2008 Apr 25;14:774-81.
To initiate a prospective study of glaucoma in a Greek village reported over 30 years ago to have several large families with primary open-angle glaucoma (POAG).
A random group of 126 villagers from Taxiarchis, Greece was examined in the village community center. The detailed evaluation included ophthalmic and general history, measurement of blood pressure, intraocular pressure (IOP), and central corneal thickness (CCT) as well as evaluation of the optic nerve status.
The incidence of glaucoma approached 18% in this small isolated village. Myocilin variants were present in almost half of the individuals screened with Arg76Lys and Thr377Met being the most common finding (25% and 17%, respectively). Over half of the individuals with the Thr377Met mutation were diagnosed with glaucoma. Two of these patients were homozygous for the Thr377Met mutation. Three individuals with the Arg76Lys polymorphism had glaucoma; however, two of these individuals also had the Thr377Met mutation. Only two patients with pseudoexfoliation were identified.
The incidence of glaucoma and the Thr377Met MYOC mutation in this population is much higher than that reported for other European populations.
开展一项针对希腊一个村庄青光眼的前瞻性研究，该村庄在30多年前就报告有几个患有原发性开角型青光眼（POAG）的大家族。
在希腊塔克西亚基斯村的社区中心对126名随机抽取的村民进行了检查。详细评估包括眼科和一般病史、血压测量、眼压（IOP）和中央角膜厚度（CCT），以及视神经状态评估。
在这个与世隔绝的小村庄中，青光眼的发病率接近18%。在几乎一半接受筛查的个体中存在肌纤蛋白变体，其中最常见的是Arg76Lys和Thr377Met（分别为25%和17%）。超过一半携带Thr377Met突变的个体被诊断为青光眼。其中两名患者为Thr377Met突变纯合子。三名携带Arg76Lys多态性的个体患有青光眼；然而，其中两名个体也携带Thr377Met突变。仅识别出两名假性剥脱患者。
该人群中青光眼的发病率和Thr377Met肌纤蛋白基因突变率远高于其他欧洲人群报告的发病率。
