Atypical Retinochoroidal Coloboma in Patients With Dysplastic Optic Discs and Transsphenoidal Encephalocele: Report of Five Cases

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.