In vivo angle dysgenesis in PHACE syndrome with developmental glaucoma

A girl in middle childhood presented with glaucoma in her right eye along with segmental haemangiomas on the right side of the face and neck. Magnetic resonance angiography of the brain showed hypoplasia of the right internal carotid artery, leading to the diagnosis of posterior fossa malformations, haemangioma, arterial anomalies, cardiac defects and eye abnormalities (PHACE) syndrome. High-definition anterior segment ocular coherence tomography (AS-OCT) of the right eye showed an absence of Schlemm’s canal and a hyperreflective membrane over the trabecular meshwork. The presence of this angle dysgenesis on AS-OCT, a novel finding in this disease, explained the elevated intraocular pressure in the right eye. The embryological basis for the development of angle dysgenesis might help better understand the pathogenesis of PHACE syndrome.