Morning Glory Disc Anomaly: Spectrum of Associated Anomalies

ABSTRACT Background and Purpose Morning glory disc anomaly (MGDA) is a rare congenital abnormality of the posterior globe with characteristic excavation of the optic disc. Associated abnormalities of the head and neck have been reported in individuals with MGDA as single or small series case reports. The goal of this retrospective study was to identify the prevalence of extraocular abnormalities in a single institution cohort of individuals with MGDA. Methods This was an IRB‐approved retrospective case series including eighteen patients with fundoscopically confirmed MGDA by an ophthalmologist and a brain MRI available for review. Brain MRIs reviewed were acquired between 2007 and 2024. Imaging was reviewed by fellowship‐trained pediatric neuroradiologists for a descriptive analysis of associated abnormalities. Results We identified associated abnormalities in 12 of the 18 patients with MGDA. The most common abnormalities were optic pathway anomalies, midline CNS and skull base anomalies, and intracranial vascular anomalies. Optic pathway enlargement was observed in seven patients (39%), and intracranial vascular anomalies were seen in four patients (22%). None of the individuals with MGDA and internal carotid artery stenosis exhibited lenticulostriate hypertrophy, typically seen with moyamoya vasculopathy. Conclusions Based on our cohort and previous literature, optic pathway enlargement and vascular anomalies are common radiologic findings in MGDA. The results of this study strengthen the need for screening individuals with MGDA for further intracranial and vascular anomalies.