Myocilin Variations and Familial Glaucoma in Taxiarchis (Taxiarchis)
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ClinicalTrials.gov Identifier: NCT00788762
Verified May 2014 by AGP Konstas, Aristotle University Of Thessaloniki. Recruitment status was: Recruiting
Taxiarchis, a small village in Northern Greece with 1060 inhabitants, was considered to have a surprisingly high incidence of glaucoma. This isolated population located on Mount Holomondas appeared to be enriched for familial glaucoma. Based upon the high reported incidence of glaucoma in Taxiarchis and previous findings of the Thr377Met myocilin mutation in the Greek population,the investigators undertook a community-based study to determine if this variant was present in this village.
Examining all of the villagers to determine the actual incidence of glaucoma in Taxiarchis and identify the Thr377Met myocilin mutation in glaucoma patients. [ Time Frame: 4 years ]
Biospecimen Retention: Samples With DNA
Myocilin screening was performed from blood or saliva specimens taken from the village. The promoter region and exons 1-3 of myocilin were sequenced at the Portland Veterans Administration Medical center. Microsatellite marker analysis in the GLC1A region, including D1S452, D1S1619, D1S2790 and D1S242 was performed at deCODE (Reykjavik, Iceland).
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