DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma
نویسندگان
چکیده
منابع مشابه
Copy number variations and primary open-angle glaucoma.
PURPOSE This study sought to investigate the role of rare copy number variation (CNV) in age-related disorders of blindness, with a focus on primary open-angle glaucoma (POAG). Data are reported from a whole-genome copy number screen in a large cohort of 400 individuals with POAG and 500 age-matched glaucoma-free subjects. METHODS DNA samples from patients and controls were tested for CNVs us...
متن کاملHigh-resolution analysis of DNA copy number alterations in patients with primary open-angle glaucoma
PURPOSE To determine whether patients with isolated primary open-angle glaucoma (POAG) have evidence of chromosomal copy number alterations. METHODS Twenty-seven Caucasian and African-American POAG patients and 12 ethnically matched controls were carefully screened for possible glaucoma and tested for chromosomal copy number alterations using high resolution array comparative genomic hybridiz...
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 کاملScreening 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 کاملWDR36 variants in East Indian primary open-angle glaucoma patients
PURPOSE Glaucoma is a heterogeneous group of optic neuropathies with a complex genetic basis. To date, only the following four genes have been identified: viz. myocilin (MYOC), optineurin (OPTN), WD repeat domain 36 (WDR36), and neurotrophin 4 (NTF4). However, there are conflicting reports regarding the involvement of WDR36 in the pathogenesis of primary open-angle glaucoma (POAG). In the Asian...
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ژورنال
عنوان ژورنال: Investigative Ophthalmology & Visual Science
سال: 2014
ISSN: 0146-0404
DOI: 10.1167/iovs.14-15712