CYP1B1Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia
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 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 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,...
متن کاملA genome-wide scan maps a novel juvenile-onset primary open-angle glaucoma locus to 15q.
PURPOSE To map the disease-associated locus of a family with autosomal dominant juvenile-onset primary open-angle glaucoma (JOAG). METHODS A complete ophthalmic examination was conducted, and genomic DNA was obtained from 25 members of a Chinese family, of which eight were confirmed as having JOAG. Myocilin (MYOC), optineurin (OPTN), and WD repeat-domain 36 (WDR36) were screened for sequence ...
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...
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ژورنال
عنوان ژورنال: Ophthalmic Genetics
سال: 2013
ISSN: 1381-6810,1744-5094
DOI: 10.3109/13816810.2013.841961