Prevalence of Open-angle Glaucoma in the Faroese Population.
Prevalence of Open-angle Glaucoma in the Faroese Population.
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DOI：
10.1097/ijg.0000000000001921
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发表时间：
2022-02-01
影响因子：
2
通讯作者：
Rosenberg T
中科院分区：
文献类型：
--
作者：
Holm E;Holm M;Vilhelmsen K;Andorsdottir G;Vorum H;Simpson A;Roos BR;Fingert JH;Rosenberg T
法罗群岛是北大西洋5万名基因与世隔绝的人的家园。开角型青光眼(OAG)在法罗群岛人群中的患病率尚不清楚。因此，我们进行了一项调查，以确定OAG在法罗群岛人群中的患病率。我们还研究了已知的青光眼致病基因在Faroese OAG中的作用。2015年10月1日至2017年12月31日，我们在Tórshavn Landss jukrahusid的Faroese国立医院对已知和新诊断的青光眼患者进行了前瞻性调查。此外，我们审查了法罗群岛唯一的眼科护理提供者，检查了2009年至6月15日、20014、2015年10月1日期间的电子医疗记录以及2016年部分重叠的眼部降压药物处方，以确定诊断为青光眼、眼压升高或眼部降压药物处方的患者。接下来，我们通过全面的眼科检查，前瞻性地确认了诊断。对患者DNA样本进行了已知青光眼致病基因(MYOC、OPTN和TBK1)的变异检测。我们确定了40岁或40岁以上个人中与年龄相关的OAG患病率为10.7/1000(1.07%)，并且与年龄高度相关。264例确诊为OAG，其中211例(79.9%)为原发性开角型青光眼(包括正常眼压性青光眼)，49例(18.6%)为假性剥脱性青光眼(PXG)，4例(1.5%)为色素青光眼。在接受青光眼药物治疗的患者中，近50%患有POAG，其余大多数人患有高眼压或继发性青光眼。在MYOC、OPTN或TBK1中未检测到致病变异体。法罗群岛计算的OAG患病率为1.07%。在Faroese POAG患者中缺乏MYOC、OPTN或TBK1致病变异，这表明一组不同的、潜在独特的基因可能与该人群青光眼的发病机制有关。
The Faroe Islands are home to 50,000 genetically isolated people in the North Atlantic. The prevalence of open angle glaucoma (OAG) in the Faroese population is unknown. Consequently, we conducted a survey to determine the prevalence of OAG in the Faroese population. We also investigated the role of known glaucoma-causing genes in Faroese OAG. We conducted a prospective survey of known and newly diagnosed glaucoma patients at the Faroese National Hospital, Landssjukrahusid, Tórshavn between Oct. 1st 2015 to 31th December 2017. In addition we reviewed the only eye care provider in the Faroese Islands by scrutinizing electronic medical records between 2009 and June 15, 20014 Oct. 1st 2015 and the partly overlapping prescriptions for ocular hypotensive medications in 2016 to identify patients with either a diagnosis of glaucoma, a diagnosis of ocular hypertension or a prescription for ocular hypotensive medications. Next, we prospectively confirmed diagnoses with complete eye examinations. Patient DNA samples were tested for variations in known glaucoma-causing genes (MYOC, OPTN, and TBK1). We determined the age-related prevalence of OAG January 1, 2017 in individuals 40 years or older to be 10.7/1,000 (1.07%) and highly age-related. A diagnosis of OAG was present in 264 patients, of whom 211 (79.9%) had primary open angle glaucoma (including normal tension glaucoma), 49(18.6%) had pseudo-exfoliation glaucoma (PXG), and 4 (1.5%) had pigmentary glaucoma (PG). Among patients receiving medications for glaucoma, nearly 50% had POAG, while the majority of the rest had ocular hypertension or secondary glaucoma. No disease-causing variants were detected in MYOC, OPTN, or TBK1. The calculated prevalence of OAG in the Faroe Islands was 1.07%. The absence of MYOC, OPTN, or TBK1 disease-causing variants in Faroese POAG patients suggests that a different, potentially unique set of genes may be contributing to the pathogenesis of glaucoma in this population.