Atypical retinochoroidal coloboma in patients with dysplastic optic discs and transsphenoidal encephalocele
M. C. Brodsky, W. F. Hoyt, C. S. Hoyt, N. R. Miller and B. L. Lam
Department of Ophthalmology, University of Arkansas for Medical Sciences, Little Rock, USA.
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.
