Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma
نویسندگان
چکیده
منابع مشابه
Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma.
Myocilin glaucoma is an autosomal dominant disorder leading to irreversible blindness, but early intervention can minimize vision loss and delay disease progression. The purpose of this study was to discuss the benefits of predictive genetic testing in minors for Myocilin mutations associated with childhood onset glaucoma. Three families with Myocilin mutations associated with an age of onset b...
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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 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 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 کاملMutations 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...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2015
ISSN: 0009-9163
DOI: 10.1111/cge.12558