Purpose: 

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.

Materials and Methods: 

We conducted a prospective survey of known and newly diagnosed glaucoma patients at the Faroese National Hospital, Landssjukrahusid, Tórshavn between October 1, 2015 to December 31, 2017. In addition we reviewed the only eye care provider in the Faroese Islands by scrutinizing electronic medical records between 2009 and June 15, 2014, October 1, 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 [myocilin (MYOC), optineurin (OPTN), and TANK binding kinase 1 (TBK1)].

Results: 

We determined the age-related prevalence of OAG January 1, 2017 in individuals 40 years or older to be 10.7/1000 (1.07%) and highly age-related. A diagnosis of OAG was present in 264 patients, of whom 211 (79.9%) had primary OAG (including normal tension glaucoma), 49 (18.6%) had pseudoexfoliation glaucoma, and 4 (1.5%) had pigmentary glaucoma. Among patients receiving medications for glaucoma, nearly 50% had primary OAG, while the majority of the rest had ocular hypertension or secondary glaucoma. No disease-causing variants were detected in MYOC, OPTN, or TBK1.

Conclusions: 

The calculated prevalence of OAG in the Faroe Islands was 1.07%. The absence of MYOC, OPTN, or TBK1 disease-causing variants in Faroese primary OAG patients suggests that a different, potentially unique set of genes may be contributing to the pathogenesis of glaucoma in this population.

中文翻译：

---

法罗群岛人群中开角型青光眼的患病率

目的： 

法罗群岛是北大西洋 50,000 名基因隔离人群的家园。法罗群岛人群中开角型青光眼 (OAG) 的患病率尚不清楚。因此，我们进行了一项调查以确定法罗群岛人口中 OAG 的患病率。我们还研究了法罗群岛 OAG 中已知青光眼致病基因的作用。

材料和方法： 

我们于 2015 年 10 月 1 日至 2017 年 12 月 31 日期间对位于托尔斯港 Landsjukrahusid 的法罗群岛国家医院的已知和新诊断的青光眼患者进行了前瞻性调查。此外，我们通过审查电子病历对法罗群岛唯一的眼科护理提供者进行了审查2009年至2014年6月15日、2015年10月1日以及2016年部分重叠的降眼压药物处方，以识别诊断为青光眼、诊断为高眼压药物或开出降眼压药物处方的患者。接下来，我们通过完整的眼科检查前瞻性地确认诊断。对患者 DNA 样本进行了已知青光眼致病基因 [myocilin ( MYOC )、optineurin ( OPTN ) 和 TANK 结合激酶 1 ( TBK1 )]变异的检测。

结果： 

我们确定，2017 年 1 月 1 日，40 岁或以上个体中 OAG 的年龄相关患病率为 10.7/1000 (1.07%)，且与年龄高度相关。264 例患者被诊断为 OAG，其中 211 例（79.9%）患有原发性 OAG（包括正常眼压性青光眼），49 例（18.6%）患有假性剥脱性青光眼，4 例（1.5%）患有色素性青光眼。在接受青光眼药物治疗的患者中，近 50% 患有原发性 OAG，而其余大多数则患有高眼压症或继发性青光眼。MYOC、OPTN或TBK1中未检测到致病变异。

结论： 

计算得出的法罗群岛 OAG 患病率为 1.07%。法罗群岛原发性 OAG 患者不存在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导致该人群青光眼的发病机制。