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  • Title: Atypical retinochoroidal coloboma in patients with dysplastic optic discs and transsphenoidal encephalocele.
    Author: Brodsky MC, Hoyt WF, Hoyt CS, Miller NR, Lam BL.
    Journal: Arch Ophthalmol; 1995 May; 113(5):624-8. PubMed ID: 7748133.
    Abstract:
    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.
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