Mutations in the Myocilin Gene in Families With Primary Open-angle Glaucoma and Juvenile Open-angle Glaucoma
نویسندگان
چکیده
منابع مشابه
Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma.
OBJECTIVES To investigate the prevalence of myocilin (MYOC) mutations in Italian families with glaucoma and to determine the relationship of these mutations to primary open-angle glaucoma (POAG), juvenile open-angle glaucoma (JOAG), and pigmentary dispersion glaucoma. METHODS Twenty-six patients with POAG were selected based on a positive family history of glaucoma. All patients and 210 relat...
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 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 TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma.
Mutations in the trabecular meshwork induced glucocorticoid response protein (TIGR) or myocilin (MYOC) has recently been shown to cause juvenile onset primary open angle glaucoma (JOAG). In this study, we identified two new mutations (Asp380Ala and Ser502Pro) in two British families and another (Pro370Leu) in a French-Canadian family. These mutations were not present in a total of 106 normal ch...
متن کاملGln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma.
PURPOSE To examine families ascertained for late-onset primary open-angle glaucoma (POAG) to determine mutations in the gene coding for myocilin. METHODS The diagnosis of late-onset POAG was defined as age at diagnosis more than 35 years, intraocular pressure (IOP) 22 mm Hg or more in both eyes or 19 mm Hg or more while the patient was taking two glaucoma medications, glaucomatous optic neuro...
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ژورنال
عنوان ژورنال: Archives of Ophthalmology
سال: 2003
ISSN: 0003-9950
DOI: 10.1001/archopht.121.7.1034