title: Imaging findings in patients with clinical anophthalmos.
abstract: OBJECTIVE
  To review the intracranial and facial imaging features in children with congenital anophthalmos.
  
  
  METHODS
  We retrospectively studied eight children with anophthalmos with respect to intraorbital, intracranial, and craniofacial anomalies (six had CT examinations, including the face, orbits, and brain, and four had MR imaging, including the orbits and brain).
  
  
  RESULTS
  Three patients had primary bilateral anophthalmos on CT (n = 1) and MR (n = 3) studies. In these patients, MR images showed hypoplasia of the optic chiasm and posterior visual pathways (n = 3), agenesis (n = 1) or dysgenesis of the corpus callosum (n = 2), and a mass in the tuber cinereum region (n = 1). One patient had incontinentia pigmenti. Five patients had unilateral anophthalmos on CT (n = 5) and MR (n = 1) studies. One of these patients had a contralateral congenital cystic eye and one had contralateral severe microphthalmia and absent optic chiasm. All had craniofacial anomalies that consisted of midline facial clefts (n = 2) and concomitant hemifacial hypoplasia (n = 2). One had a craniosynostosis. All five had normal-appearing brains.
  
  
  CONCLUSIONS
  Patients with bilateral anophthalmos represent a distinct group from those with unilateral anophthalmos. In our patients, bilateral anophthalmos was associated with absence of the optic chiasm, diminished size of the posterior optic pathways, and agenesis or dysgenesis of the corpus callosum. Patients with unilateral anophthalmos had severe craniofacial anomalies. Imaging of the face is helpful in patients with unilateral anophthalmos.
authors.affiliation: Department of Radiology, University of North Carolina at Chapel Hill, 27599, USA.
authors.forename: V S
authors.initials: VS
authors.lastname: Albernaz
authors.forename: M
authors.initials: M
authors.lastname: Castillo
authors.forename: P A
authors.initials: PA
authors.lastname: Hudgins
authors.forename: S K
authors.initials: SK
authors.lastname: Mukherji
mesh_terms: D061085:Agenesis of Corpus Callosum; D000853:Anophthalmos / Q000175:diagnosis*; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D002648:Child; D003337:Corpus Callosum / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D004292:Dominance, Cerebral / Q000502:physiology; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009897:Optic Chiasm / Q000002:abnormalities* / Q000473:pathology; D009900:Optic Nerve / Q000002:abnormalities / Q000473:pathology; D014057:Tomography, X-Ray Computed; D014795:Visual Pathways / Q000002:abnormalities* / Q000473:pathology