Genotype and Phenotype Correlation in Congenital Glaucoma: CYP1B1 Mutation, Goniodygenei, and Clinical Characteritic

Purpoe To determine whether there i a correlation among mutation in the cytochrome P4501B1 gene (CYP1B1), the degree of angle dygenei oberved hitologically, and dieae everity in congenital glaucoma. Deign Interventional cae erie. Method Direct DNA equencing wa ued to creen ix unrelated children with congenital glaucoma, each et of parent, and all ibling for CYP1B1 mutation. pecimen of the anterior chamber angle obtained at trabeculectomy were examined hitologically to identify abnormalitie of the aqueou outflow pathway. CYP1B1 mutation were correlated with both the degree of angle dygenei and the patient’ dieae everity (age at diagnoi, difficulty in achieving intraocular preure [IOP]) control. Reult Four (66.7%) of the ix patient were compound heterozygote for mutation in the CYP1B1 gene. even of the eight CYP1B1 mutation were identified, including two novel mutation (R117P, C209R) and five other previouly decribed (G61E, R368H, R390H, E229K, 4340delG). The cae were divided on the bai of hitological phenotype into categorie of (1) evere goniodygenei highlighted by the agenei of the canal of chlemm (two patient), (2) moderate goniodygenei characterized by the preence of a band of collagenou tiue (CT) in the trabecular mehwork (TM) and/or the juxtacanalicular tiue (JXT) (three patient), and (3) mild goniodygenei with depoition of a mucopolyaccharide material in the JXT (one patient). CYP1B1 mutation were identified in both cae of evere angle dygenei and two of three cae of moderate dygenei. Dieae everity cloely correlated with the degree of angle dygenei. Concluion Mot patient in our cohort had compound heterozygou CYP1B1 mutation. pecific CYP1B1 mutation may be aociated with evere or moderate angle abnormalitie.