Atypical retinochoroidal coloboma in patients with dysplastic optic discs and transsphenoidal encephalocele

Arch Ophthalmol. 1995 May;113(5):624-8. doi: 10.1001/archopht.1995.01100050092036.


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.

Conclusion: 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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Choroid / abnormalities*
  • Choroid / pathology
  • Coloboma / complications*
  • Coloboma / pathology
  • Encephalocele / complications*
  • Encephalocele / pathology
  • Female
  • Humans
  • Male
  • Optic Disk / abnormalities*
  • Optic Disk / pathology
  • Retina / abnormalities*
  • Retina / pathology
  • Retinal Dysplasia / complications*
  • Retinal Dysplasia / pathology
  • Retrospective Studies