@article {Hendzel:2025:2637-8329:109,
title = "Eye as a Window to the Soul: Orbital Anomalies with Underlying Central Nervous System Pathologies",
journal = "Neurographics",
parent_itemid = "infobike://asnr/ng",
publishercode ="asnr",
year = "2025",
volume = "15",
number = "2",
publication date ="2025-04-01T00:00:00",
pages = "109-123",
itemtype = "ARTICLE",
issn = "2637-8329",
eissn = "2637-8329",
url = "https://asnr.publisher.ingentaconnect.com/content/asnr/ng/2025/00000015/00000002/art00007",
doi = "doi:10.3174/ng.2300048",
keyword = "NF1 = neurofibromatosis type 1, ONH = optic nerve hypoplasia, VATER = vertebral anomalies, anal atresia, tracheoesophageal fistula, renal anomalies, PFV = persistent fetal vasculature, PHACES = posterior fossa malformations, hemangioma(s), arterial cerebrovascular anomalies, cardiovascular anomalies, eye abnormalities, and sternal clefting and/or supraumbilical raphe, NF2 = neurofibromatosis type 2, MGDA = morning glory disc anomaly, CHARGE = coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities, SOD = septo-optic dysplasia, TORCH = toxoplasmosis, others (syphilis, varicella-zoster), rubella, cytomegalovirus, herpes simplex virus",
author = "Hendzel, K.D. and Gadde, J.A. and Saran, N. and Mocan, M.C. and Ozgen, B.",
abstract = "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.",
}