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May 1995

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

Author Affiliations

From the Departments of Ophthalmology, the University of Arkansas for Medical Sciences, Little Rock (Drs Brodsky and Lam), University of California-San Francisco (Drs W. F. Hoyt and C. S. Hoyt), and Johns Hopkins School of Medicine, Wilmer Eye Institute, Baltimore, Md (Dr Miller).

Arch Ophthalmol. 1995;113(5):624-628. doi:10.1001/archopht.1995.01100050092036

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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