Myocilin variations and familial glaucoma in Taxiarchis, a small Greek village.
作者： Irene Georgiadou , Anastasios G. P. Konstas , Antonios Dimopoulos , John R. Samples , Mary K. Wirtz
DOI:
关键词: Population 、 Ophthalmology 、 Mutation (genetic algorithm) 、 Intraocular pressure 、 Blood pressure 、 Medicine 、 Prospective cohort study 、 Glaucoma 、 Incidence (epidemiology) 、 Myocilin
摘要: PURPOSE To initiate a prospective study of glaucoma in Greek village reported over 30 years ago to have several large families with primary open-angle (POAG). METHODS A random group 126 villagers from Taxiarchis, Greece was examined the community center. The detailed evaluation included ophthalmic and general history, measurement blood pressure, intraocular pressure (IOP), central corneal thickness (CCT) as well optic nerve status. RESULTS incidence approached 18% this small isolated village. Myocilin variants were present almost half individuals screened Arg76Lys Thr377Met being most common finding (25% 17%, respectively). Over mutation diagnosed glaucoma. Two these patients homozygous for mutation. Three polymorphism had glaucoma; however, two also Only pseudoexfoliation identified. CONCLUSIONS MYOC population is much higher than that other European populations.
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