CYP1B1 Gene Mutation Impact on Prognosis of Primary Congenital Glaucoma

Abstract

rimary congenital glaucoma is a common cause of childhood blindness characterized by progressive loss of ganglion cell layer due to elevated intraocular pressure secondary to trabeculodysgenesis. This can impair the ocular perfusion pressure and disrupts the axoplasmic transport at the optic nerve head leading to progressive cupping. Surgery has been the traditional treatment to salvage vision provided that early diagnosis has been established. Genetic testing can provide a diagnostic tool. This study was done to screen for CYP1B1 gene disease causing mutations in PCG patients undergoing surgery, and to correlate the genotype identified to the disease severity and surgical outcome. The study was conducted on 39 eyes of 24 PCG patients who were presented to ophthalmology outpatient clinic of Ain shams university hospitals with PCG. The patients were grouped into 2 subgroups according to the genotype identified. Group A and B.