Objectives: To clinically characterize 116 Chinese patients with primary congenital glaucoma and to determine the role of CYP1B1 and MYOC mutations in this cohort.
Methods: This study included 116 unrelated patients with primary congenital glaucoma and 120 ethnically matched, unrelated, healthy controls in China. CYP1B1 and MYOC were amplified from genomic DNA, followed by direct DNA sequencing to identify disease-causing variants.
Results: Twenty patients (17.2%) had CYP1B1 mutations. Five of these patients had homozygous mutant alleles and 4 had compound heterozygous mutations. Fourteen of the mutations were novel. Three patients (2.6%) had MYOC mutations, all of which were novel.
Conclusions: This study describes the spectrum of CYP1B1 and MYOC mutations in a large cohort of Chinese patients with primary congenital glaucoma. The role of mutations in CYP1B1 and MYOC varies, depending on the ethnic origin of the patients. Clinical Relevance Patients with primary congenital glaucoma and CYP1B1 mutations tend to have a more severe phenotype than those without mutations. Genetic testing of CYP1B1 mutations may help predict new cases and their prognoses.