CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia.

ABSTRACT:

Background

CYP1B1 is the most commonly mutated gene in primary congenital glaucoma (PCG). This study was undertaken to identify mutations in CYP1B1 in the Western region of Saudi Arabia.

Methods

Blood of patients who had typical findings of PCG, were screened by direct sequencing of all coding exons and splice junctions of the CYP1B1 gene.

Results

34 patients were studied; 18 patients belonged to 8 families, and 16 patients were non-familial, isolated PCG. Consanguinity was found in 27/34 (79.4%) of cases. All patients were diagnosed to have bilateral PCG at birth except one child, who had glaucoma in the right eye. More males (61.8%) were affected than females (38.2%). 79.4% (27/34) of patients were solved with pathogenic mutations and 20.6% (7/34) remained unsolved.

SUBMITTER: Badeeb OM 

PROVIDER: S-EPMC4258803 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature