Heilsa - Sjúkrakassagrunnurin
A population study on Glaucoma in the Faroe Islands. Clinical characteristics, prevalence, and genetics.
Elin Holm, Kaj Vilhelmsen, Malan Holm, Guuðrið Andorsdóttir og John Fingert
Stuðul úr Granskingargrunninum:
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.