Orbital Imaging Manifestations of Neurocutaneous Syndromes Revisited

Neurocutaneous syndromes or phakomatoses represent a heterogeneous group of multisystemic disorders involving structures of ectodermal origin. Characteristic ocular manifestations are described for individual entities that are often the first clues to the underlying diagnosis. However, opaque ocular media or involvement of retrobulbar orbit limits adequate clinical evaluation. This underlines the role of imaging, especially cross-sectional imaging modalities, such as computed tomography and magnetic resonance imaging, which offer a comprehensive evaluation of orbit and its contents. This review aims to summarize the cross-sectional imaging features of orbital manifestations of common neurocutaneous syndromes encountered in clinical practice.