Clinical phenotype of juvenile open-angle glaucoma linked to chromosome 1q in a Danish family
نویسندگان
چکیده
منابع مشابه
2138 Exclusion of chromosome 1q as the susceptibility locus in familial primary open angle glaucoma
fir-pose: Dorzolamide @ORE) is a topical carbonic anhydrase (CA) inhibitor that is approved for treatment of open-angle glauccma and ocular hypertension. DORE exerts its effects directly in the eye at substantially lower doses and therefore with less systemic exposure than oral CA inhibitors To evaluate DORZ's potential for systemic CA inhibition, maximum systemic exposure was simulated through...
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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...
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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 کاملPro370Leu MYOC gene mutation in a large Chinese family with juvenile-onset open angle glaucoma: correlation between genotype and phenotype
PURPOSE Glaucoma is the leading cause of irreversible blindness worldwide. Most of the cases are primary open angle glaucoma (POAG). POAG is a genetically heterogenous disease; autosomal dominance is the most frequent type of monogenic inheritance. In this study, we identified the genotype of a MYOC mutation and investigated the phenotype of a Chinese juvenile-onset open angle glaucoma (JOAG) p...
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Chromosome 1q? Levinson et al. (1) reported the results of a meta-analysis of families showing no major schizophrenia locus on chromosome 1q. These results, based on a multicenter study of affected sibling pairs (ASPs), are in striking contrast to findings of several recent papers reporting susceptibility loci on 1q in extended families. Significant linkage (LOD 6.5) at 1q21-22 was detected in ...
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ژورنال
عنوان ژورنال: Acta Ophthalmologica Scandinavica
سال: 1999
ISSN: 1395-3907
DOI: 10.1034/j.1600-0420.1999.770518.x