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Year of grant: 2014 Research Area: Heilsa - Sjúkrakassagrunnurin Project type: Verkætlan Project title: A population study on Glaucoma in the Faroe Islands. Clinical characteristics, prevalence, and genetics. Grant number: 3014 Project manager: Thomas Rosenberg Institution/company: Landssjúkrahúsið Other participants: Elin Holm, Kaj Vilhelmsen, Malan Holm, Guuðrið Andorsdóttir og John Fingert Project period: 1.1.15-31.12.18 Total budget: 375360 Grant from the FRC in DKK: 375360 Project description: Original The Faroese Glaucoma Study. Epidemiology, genetics, and heredity Primary Open Angle Glaucoma (POAG), a potentially blinding eye disease, is a relatively frequent disorder, especially among the elderly. Glaucoma is characterized by a particular degeneration of the optic nerve. The person-related and socio-economic impact of the glaucoma diseases is substantial. A preliminary study has been conducted and a database has been established including all live and deceased patients with a diagnosis of POAG from the 70-year period 1947-2013. Diagnostic mutation analyses on DNA from 10 persons by sequencing the most common POAG gene, myocillin have been performed and did not show any mutations so far. The project aims at determine the prevalence, familial pattern, clinical types, and mutational spectrum of glaucoma in the population. Besides the scientific results, the study will provide a better knowledge to improve glaucoma care in the Faroe Islands. Furthermore, the introduction of a structured follow-up will allow for the introduction of a quality-control program. The study will assemble clinical data during routine visits at the out-patient ophthalmic department during twelve consecutive months. Within this time it is expected that all live glaucoma patients resident in the Faroes will be diagnosed or controlled once or twice at the Eye department. The patients will pass an eye examination with a uniform set of measurements to determine the stage and type of glaucoma. After information and consent from the patients a blood sample will be taken for enrollment into the molecular genetical part of the study. All blood samples will be stored in the Genetic Biobank and DNA samples sent to a specialized glaucoma laboratory in Iowa for molecular genetics analyses. The genealogical and molecular genetics results are of special interest due to the unique genealogical composition of the population. We expect to identify families with a high risk for the development of glaucoma. In these families early intervention will be able to reduce the risk of blindness. In accordance with earlier ophthalmic genetic work it is also expected to discover rare and novel glaucoma genes. Final 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. Methods We conducted a prospective survey of known and newly diagnosed glaucoma patients at the Faroese National Hospital, Landssjukrahusid, Tórshavn between Oct. 1 st 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. 1 st 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 ). Results 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 pseudoexfoliation 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 . Conclusion 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 Project status: Liðug Project output: Scientific articles, books, thesis etc. Prevalence of open-angle glaucoma in the Faroese Population, J Glaucoma 31(2),72-78, 2022. Publications outside the scientific community, i.e. lectures, periodicals, articles in newspapers, television and radio Kunning from Landssjukrahúsið 17. januar 2022: Grøn star- ein varandi eygnasjúka, ið kann tálmast við viðgerð. << Back |
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