Eye as a Window to the Soul: Orbital Anomalies with Underlying Central Nervous System Pathologies

The embryonic development of the orbit is a complex, integrated process with multiple cell contributions from neuroectoderm, surface ectoderm, mesoderm, and neural crest cells. Deviations from this intricate development path can result in various developmental anomalies. While orbital anomalies may occur in isolation, they are frequently intertwined with brain malformations or are part of a broader multisystem process, representing the “tip of the iceberg” as a warning for underlying intracranial malformations.This review serves as a resource for radiologists to better understand the relationship between orbital and intracranial malformations by showing their common imaging appearances through illustrative cases. Attention will be placed on the typical orbital anomalies of well-known syndromes with CNS manifestations. Similarly, the orbital components of more complex CNS syndromes will be discussed because they may be more subtle and overlooked if unknown, but with devastating consequences.Recognizing the intricate relationship between orbital and intracranial anomalies underscores the critical role of the radiologist for prompt and accurate diagnosis to secure optimal management, avoid unnecessary treatment and/or disease progression, and ultimately maximize patient care.Learning Objective: Identify congenital orbital anomalies and recognize associated intracranial anomalies.