Juvenile Open-Angle Glaucoma: A Report of a Pedigree
نویسندگان
چکیده
منابع مشابه
Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma
PURPOSE To investigate the genotype and phenotype of juvenile-onset open angle glaucoma (JOAG) in a Chinese family (PN pedigree). METHODS Each family member was comprehensively examined by an experienced ophthalmologist. The clinical characteristics of the family patients with JOAG were documented. Blood samples were obtained from 22 available participants from the PN pedigree. Linkage analys...
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 کاملDefining the pathogenicity of optineurin in juvenile open-angle glaucoma.
PURPOSE Juvenile open-angle glaucoma (JOAG) differs from primary open-angle glaucoma in that it is usually a more severe phenotype and has an earlier age of onset. Optineurin was recently associated with a variant of POAG that is characterized by intraocular pressure within normal limits: normal-tension glaucoma. The present study tested whether OPTN sequence changes play a role in early-onset ...
متن کاملClinical Characteristics of Juvenile-onset Open Angle Glaucoma.
PURPOSE To demonstrate the clinical characteristics of juvenile-onset open angle glaucoma (JOAG) and to evaluate the prognostic factors for visual field (VF) progression in eyes with JOAG. METHODS The medical records of 125 eyes of 72 patients with JOAG were analyzed retrospectively. At least four reliable VF tests were required to determine the VF progression, and the progression was defined...
متن کاملSequence analysis of MYOC and CYP1B1 in a Chinese pedigree of primary open-angle glaucoma
PURPOSE To analyze two candidate genes, trabecular meshwork inducible glucocorticoid response (MYOC/TIGR) and human dioxin-inducible cytochrome P450 (CYP1B1), in a Chinese pedigree of primary open-angle glaucoma. METHODS In a three-generation family containing 14 members, four of them were patients with primary open-angle glaucoma, one was a glaucoma suspect, and the rest were asymptomatic. A...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Ophthalmologica
سال: 1995
ISSN: 1423-0267,0030-3755
DOI: 10.1159/000310583