However, the Kaplan-Meier survival analysis revealed a significantly lower time of IOP control in the subgroup with mutations in CYP1B1 versus the congenital primary glaucoma group without mutations (log rank test, <i>P</i>=0.015).
Ophthalmolgical records were reviewed and phenotype which was defined by age at onset, presenting intraocular pressure (IOP), corneal diameter, and vertical cup to disc ratio, and the number of procedures was correlated with the presence or absence of CYP1B1 mutations.
Our findings advance the understanding of the effects of CYP1B1 mutations in TM development and primary congenital glaucoma, as well as suggest a link between TM morphologic alterations and increased intraocular pressure.
Mean of intraocular pressure, corneal diameter and number of surgery values and cup-to-disc ratios, and percentages of patients with bilateral PCG, eyes with severe opacities and severe phenotype, and those that needed >1 trabeculectomy were significantly higher in the CYP1B1 mutation carriers (n=51) than in the no CYP1B1 mutation group (n=43).
Patients carrying CYP1B1 gene mutations needed more surgical procedures to control intraocular pressure, either when both eyes were evaluated (P=0.003) or when the worst eye of the patient was analyzed (P=0.011).
Pathogenic CYP1B1 mutations impair anterior chamber development and differentiation by blocking the aqueous outflow and raising intraocular pressure (IOP).