APR 01, 2020
AAO 2019 Video Program
This video demonstrates a lesson learned from an infant brought by parents complaining of “a worm in the eye with bleeding.” There was no visible pupil. Careful clinical examination clinched the diagnosis of Axenfeld-Rieger syndrome (ARS). Ultrasound biomicroscopy-guided pupilloplasty restored a clear visual axis. ARS presents in three typical forms with overlapping features. Axenfeld anomaly presents mostly with a prominent Schwalbe line, which could mimic a cord-like structure. In our case, the Schwalbe had detached and pulled the iris along, causing hyphema. This case helped us in managing another infant who presented with what appeared as a severely distorted anterior segment, puckered iris, flat anterior chamber and no pupil. Our experience with the previous infant made us look for and diagnose ARS. She also underwent pupilloplasty and subsequent glaucoma surgery. This video will demonstrate both cases and show an overview of the variable phenotypes that characterize ARS.