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.
Brodsky MC, Hoyt WF, Hoyt CS, Miller NR, Lam BL. Atypical Retinochoroidal Coloboma in Patients With Dysplastic Optic Discs and Transsphenoidal Encephalocele: Report of Five Cases. Arch Ophthalmol. 1995;113(5):624–628. doi:10.1001/archopht.1995.01100050092036
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