A CYP1B1 associated irido‐trabeculodysgenesis

Abstract

AbstractPurpose: CYP1B1 mutations are commonly associated with primary congenital glaucoma (PCG). PCG is due to an isolated trabeculodysgenesis and classically does not involve iris dysgenesis. We describe a cohort of atypical PCG phenotype showing iris atrophy.Methods: In this study, exome sequencing was carried out in five patients with neonatal onset congenital glaucoma who also had features of iris atrophy that were detected once the children were old enough for slit lamp examination.Results: The five patients identified had presented with bilateral neonatal onset glaucoma with iris abnormalities like iris atrophy, corectopia and polycoria detected when they were older. All patients had undergone bilateral trabecutectomy with ab externo trabeculotomy during early childhood. The mean age of these children at the time of this study was 14.4 years (range: 8–25 years). The iris atrophy was characteristically peripheral and circumferential. However, none of these patients had evidence of a posterior embryotoxon or peripheral anterior synechiae in the angle (PAS), typical of Axenfeld Rieger Syndrome (ARS). Whole exome sequencing identified biallelic CYP1B1 mutations in all of these five patients as pathogenic variants.Conclusion: This variant of neonatal onset PCG associated with biallelic CYP1B1 mutations may have associated iridodysgenesis and may resemble the ARS phenotype.