Genetic screening in a large family with juvenile onset primary open angle glaucoma
نویسندگان
چکیده
منابع مشابه
Genetic screening in a large family with juvenile onset primary open angle glaucoma.
AIMS A number of genetic loci have been implicated in the pathogenesis of primary open angle glaucoma (POAG). The aim of this study was to identify the genetic cause of POAG in a large Scottish family and, if possible, offer genetic screening and advice to family members. METHODS Family members were examined to determine their disease status. Base excision sequence scanning was carried out in...
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 کاملIdentification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma
PURPOSE To describe the clinical and genetic findings in one Chinese family with juvenile-onset open angle glaucoma (JOAG). METHODS One family was examined clinically and a follow-up took place 5 years later. After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants. Linkage analysis was performed with three microsatellite markers around the MYOC...
متن کاملNovel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma.
OBJECTIVE To search for the genetic cause of juvenile-onset open-angle glaucoma (JOAG) in a Chinese family. METHODS In a 3-generation glaucoma family affected with JOAG or ocular hypertension, we screened myocilin (MYOC) and optineurin (OPTN) for mutations and investigated apolipoprotein E (APOE) polymorphisms in 6 family members, 2 of them patients with JOAG, 2 patients with ocular hypertens...
متن کاملIn Vivo Analysis of Angle Dysgenesis in Primary Congenital, Juvenile, and Adult-Onset Open Angle Glaucoma.
Purpose The purpose of this study was to comparatively evaluate angle dysgenesis in vivo, among congenital, juvenile, and adult-onset open angle glaucoma patients. Methods A cross-sectional evaluation of 96 glaucoma patients, 22 children with primary congenital glaucoma (PCG) old enough to cooperate for optical coherence tomography (OCT), 34 juvenile-onset open angle glaucoma (JOAG) patients,...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 2000
ISSN: 0007-1161
DOI: 10.1136/bjo.84.7.722