title: Atypical retinochoroidal coloboma in patients with dysplastic optic discs and transsphenoidal encephalocele.
abstract: OBJECTIVE
  To evaluate the clinical significance of V- or tongue-shaped infrapapillary retinochoroidal depigmentation in association with dysplastic optic discs.
  
  
  METHODS
  Clinical data from all patients with V- or tongue-shaped infrapapillary retinochoroidal depigmentation and dysplastic optic discs were evaluated retrospectively.
  
  
  RESULTS
  Five patients with this atypical colobomatous anomaly had transsphenoidal encephalocele. A sixth patient had an ectopic midline pharyngeal mass with no skull-base defect.
  
  
  CONCLUSIONS
  In patients with optic disc dysplasias, the finding of this V- or tongue-shaped retinochoroidal pigmentary anomaly should prompt neuroimaging to look for transsphenoidal encephalocele.
authors.affiliation: Department of Ophthalmology, University of Arkansas for Medical Sciences, Little Rock, USA.
authors.forename: M C
authors.initials: MC
authors.lastname: Brodsky
authors.forename: W F
authors.initials: WF
authors.lastname: Hoyt
authors.forename: C S
authors.initials: CS
authors.lastname: Hoyt
authors.forename: N R
authors.initials: NR
authors.lastname: Miller
authors.forename: B L
authors.initials: BL
authors.lastname: Lam
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002829:Choroid / Q000002:abnormalities* / Q000473:pathology; D003103:Coloboma / Q000150:complications* / Q000473:pathology; D004677:Encephalocele / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D009898:Optic Disk / Q000002:abnormalities* / Q000473:pathology; D012160:Retina / Q000002:abnormalities* / Q000473:pathology; D015792:Retinal Dysplasia / Q000150:complications* / Q000473:pathology; D012189:Retrospective Studies