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O. Niño de Rivera, S. Rodríguez, O. Vázquez, V. Morán, V. Korder, K. Hartlebem; MOLECULAR SCREENING FOR CYP1B1 GENE MUTATIONS AND PHENOTYPIC VARIABILITY IN MEXICAN PRIMARY CONGENITAL GLAUCOMA PATIENTS. . Invest. Ophthalmol. Vis. Sci. 2004;45(13):4407.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To identify CYP1B1 gene mutations and their phenotypic expression in Mexican patients suffering from primary congenital glaucoma (PCG). Methods: 20 unrelated Mexican patients suffering from PCG were clinically evaluated by the glaucoma service and after obtaining informed consent were included in the study. The clinical evaluation described phenotypic variability among there. DNA was extracted from leukocytes of the patients, their first grade relatives, and unrelated healthy individuals as controls. Amplicons spanning the coding regions of the CYP1B1 gene, were examined by direct sequencing. Results: Five distinct mutations in 10 patients (50%) were identified, one of them corresponded to homocygote state , four to compound heterozygotes and five were heterozygous (only one mutant allele was detected).. R48G was the most common mutation, accounting for 80% of the individuals examined. Conclusions: Our results indicate that CYP1B1 mutations may be responsibles for the 50% PCG cases in Mexican population.
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