Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma
نویسندگان
چکیده
منابع مشابه
Screening of CYP1B1 Arg368His as predominant mutation in North Indian primary open angle glaucoma and juvenile onset glaucoma patients
In India, mutations in Cytochrome P450 (CYP1B1) are a predominant cause of not only primary congenital glaucoma (PCG) but also involved in primary open angle glaucoma (POAG) and juvenile onset glaucoma (JOAG). After ethical clearance, 100 POAG patients, 30 primary angle closure glaucoma (PACG) patients and 130 ethnically matched controls were recruited in this study. Genomic DNA was is...
متن کاملCYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.
INTRODUCTION Primary open-angle glaucoma (POAG) is a leading cause of visual impairment worldwide and a complex genetic disorder that affects mostly adults. Mutations in the MYOCILIN (MYOC) and OPTINEURIN genes account for rare forms with a Mendelian inheritance and for <5% of all POAG cases. The CYP1B1 gene, a member of the cytochrome P450 gene family, is a major cause of primary congenital gl...
متن کاملPrimary open-angle glaucoma
Primary open-angle glaucoma (POAG) is an idiopathic disorder in which the resistance to outflow through the trabecular meshwork gradually increases and the intraocular pressure (IOP) rises, causing irreversible damage to the optic nerve POAG is the second most common cause of vision loss in the U.S. Usually asymptomatic until advanced visual field loss has occurred; less than 50% of those...
متن کاملNovel and known MYOC exon 3 mutations in an admixed Peruvian primary open-angle glaucoma population
PURPOSE The aim of this study was to characterize a representative sample of the Peruvian population suffering open-angle glaucoma (OAG) with respect to the myocilin gene (MYOC) mutations, glaucoma phenotype, and ancestry for future glaucoma risk assessment. METHODS DNA samples from 414 unrelated Peruvian subjects, including 205 open-angle glaucoma cases (10 juvenile glaucoma [JOAG], 19 norma...
متن کاملprimary open-angle glaucoma risk factors
purpose: the objective of this study was to identify possible risk factors associated with primary open-angle glaucoma (poag). methods: a case-control study included patients seen at rasoul-akram hospital ophthalmology clinic. cases were consecutive patients with confirmed unilateral or bilateral poag presented during the study period. controls were a random sample of all other patients aged 30...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2017
ISSN: 1552-5783
DOI: 10.1167/iovs.16-21049