Abstract
Background
Primary congenital glaucoma (PCG) is a leading cause of childhood blindness in Egypt. The discovery of the underlying genetic causes has led to far greater understanding of disease mechanisms. Cytochrome P450, family 1, subfamily B, polypeptide 1(CYP1B1) gene mutations usually inherited in an autosomal recessive manner are one of the major etiologies behind PCG. Gene screening aids early diagnosis of PCG which is a key factor in managing and preventing blindness from the disease.
Aim
This study aims to screen for CYP1B1gene mutations in PCG patients and study its possible impact on surgical outcome of PCG.
Methods
Twenty-four PCG patients enrolled in this study underwent trabeculotomy, and were followed up at a 3 month interval for a year. Patients’ demographic details were recorded, and their genomic DNA was screened for CYP1B1 mutations. Genotypic impact on surgical outcome was compared between the group of patients who harbored mutations and the group unsolved with mutations.
Results
Six different disease causing CYP1B1 mutations were identified in 13 (54.17 %) of affected patients who exhibited more surgical failure at the last follow up visit.
Conclusion
This study further endorses CYP1B1 mutations as a possible etiological and prognostic factor for PCG.
Compound heterozygous mutations in CYP1B1 gene leads to severe primary congenital glaucoma phenotype
