ArticleMolecular vision2008
Myocilin variations and familial glaucoma in Taxiarchis, a small Greek village.
Article in Molecular vision, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Review
- Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.Human mutation · 2021Review
- Binding of a glaucoma-associated myocilin variant to the αB-crystallin chaperone impedes protein clearance in trabecular meshwork cells.The Journal of biological chemistry · 2018Article
- Variants in ASB10 are associated with open-angle glaucoma.Human molecular genetics · 2012Article
- Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma.Molecular vision · 2012Article
- Evaluation of NTF4 as a causative gene for primary open-angle glaucoma.Molecular vision · 2012Article
- Association of POAG risk factors and the Thr377Met MYOC mutation in an isolated Greek population.Investigative ophthalmology & visual science · 2010Article
- Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece.Clinical ophthalmology (Auckland, N.Z.) · 2010Article
- Heterozygous expression of myocilin glaucoma mutants increases secretion of the mutant forms and reduces extracellular processed myocilin.Molecular vision · 2008Article
- The effects of myocilin expression on functionally relevant trabecular meshwork genes: a mini-review.Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and TherapeuticsReview
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
purposeTo initiate a prospective study of glaucoma in a Greek village reported over 30 years ago to have several large families with primary open-angle glaucoma (POAG).
methodsA random group of 126 villagers from Taxiarchis, Greece was examined in the village community center. The detailed evaluation included ophthalmic and general history, measurement of blood pressure, intraocular pressure (IOP), and central corneal thickness (CCT) as well as evaluation of the optic nerve status.
resultsThe incidence of glaucoma approached 18% in this small isolated village. Myocilin variants were present in almost half of the individuals screened with Arg76Lys and Thr377Met being the most common finding (25% and 17%, respectively). Over half of the individuals with the Thr377Met mutation were diagnosed with glaucoma. Two of these patients were homozygous for the Thr377Met mutation. Three individuals with the Arg76Lys polymorphism had glaucoma; however, two of these individuals also had the Thr377Met mutation. Only two patients with pseudoexfoliation were identified.
conclusionsThe incidence of glaucoma and the Thr377Met MYOC mutation in this population is much higher than that reported for other European populations.
Indexed as
Identifiers
18449353PMC2358920What OpenQuestion holds
Registered trials
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