José Paulo Cabral de Vasconcellos

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Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease(More)
Mutations in the myocilin gene (MYOC) account for most cases of autosomal dominant juvenile-onset open-angle glaucoma (JOAG), an earlier and more severe form of POAG. We accessed seven members of a Brazilian JOAG family by clinical and molecular investigation. Four out of seven family members were diagnosed with JOAG. All of these patients presented high(More)
BACKGROUND Primary congenital glaucoma (PCG), occurs due to the developmental defects in the trabecular meshwork and anterior chamber angle in children. PCG exhibits genetic heterogeneity and the CYP1B1 gene has been widely implicated worldwide. Despite the diverse mutation spectra, the clinical implications of these mutations are yet unclear. The present(More)
PURPOSE To evaluate the sensitivity and specificity of the screening modes of frequency-doubling technology (FDT), tendency-oriented perimetry (TOP), SITA Standard (SS) and SITA Fast (SF) in perimetrically inexperienced individuals. METHODS One eye of 64 glaucoma patients and 53 normal subjects who had never undergone automated perimetry were tested with(More)
PURPOSE Axenfeld-Rieger (AR) is an autosomal dominant disorder with phenotypic heterogeneity characterized by anterior segment dysgenesis, facial bone defects, and redundant periumbilical skin. The PITX2 gene, on chromosome 4q25, and the FOXC1 gene, on chromosome 6p25, have been implicated in the different phenotypes of the syndrome through mutational(More)
PURPOSE To evaluate the penetrance and the clinical characteristics of the Cys433Arg myocilin mutation in a family pedigree with primary open-angle glaucoma. PATIENTS AND METHODS Primary open-angle glaucoma was defined as untreated intraocular pressure (IOP) over 24 mmHg, with characteristic optic nerve and visual field glaucomatous damage. Patients with(More)
BACKGROUND An association between LOC387715/ARMS2 (rs10490924) gene polymorphism and AMD has been reported. The aim of this study was to evaluate whether this polymorphism is associated with AMD in a Brazilian cohort. MATERIALS AND METHODS In total, 126 unrelated AMD patients (mean age 74.17 ± 7.64) were compared with 86 healthy controls (mean age 71.82 ±(More)
PURPOSE To determine the spectrum of CYP1B1 gene mutations in Brazilian patients with primary congenital glaucoma, and to correlate the presence of alterations in the CYP1B1 gene sequence with clinical aspects of the disease. MATERIALS AND METHODS Thirty nonrelated patients with primary congenital glaucoma were studied. Molecular analysis consisted of the(More)
PURPOSE To describe a novel polymorphism in the γD-crystallin (CRYGD) gene in a Brazilian family with congenital cataract. METHODS A Brazilian four-generation family was analyzed. The proband had bilateral lamellar cataract and the phenotypes were classified by slit lamp examination. Genomic DNA was extracted from peripheral blood and coding regions and(More)