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...)