Null CYP1B1 Genotypes in Primary Congenital and Nondominant Juvenile Glaucoma

Purpose: To assess the mutation spectrum, enzymatic activity, and phenotypic features associated with CYP1B1 genotypes in primary congenital glaucoma (PCG) and nondominant juvenile glaucoma (ndJG). Design: CYP1B1 genotyping, segregation analysis, and functional evaluation of mutations in a cohort of patients. Participants: A total of 177 probands clinically diagnosed with PCG (161) or ndJG (16). Methods: Automatic DNA sequencing of the promoter (−1 to −867) and the 3 CYP1B1 exons. CYP1B1 enzymatic activity was evaluated using an ethoxyresorufin O-deethylation assay in transfected HEK-293T cells. Main Outcome Measures: Screening and functional evaluation (Read more...)

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