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

Archives of Ophthalmology
M C BrodskyB L Lam


To evaluate the clinical significance of V- or tongue-shaped infrapapillary retinochoroidal depigmentation in association with dysplastic optic discs. Clinical data from all patients with V- or tongue-shaped infrapapillary retinochoroidal depigmentation and dysplastic optic discs were evaluated retrospectively. Five patients with this atypical colobomatous anomaly had transsphenoidal encephalocele. A sixth patient had an ectopic midline pharyngeal mass with no skull-base defect. 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.


May 11, 2013·AJNR. American Journal of Neuroradiology·S EllikaM J Paldino
May 29, 1998·The British Journal of Ophthalmology·P HodgkinsD S Taylor
Mar 24, 1999·American Journal of Ophthalmology·S J BakriE I Traboulsi
Oct 3, 2006·American Journal of Ophthalmology·Phoebe D LenhartAmy K Hutchinson

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