Atypical retinochoroidal coloboma in patients with dysplastic optic discs and transsphenoidal encephalocele.
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.


CONCLUSIONS
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
M C
MC
Department of Ophthalmology, University of Arkansas for Medical Sciences, Little Rock, USA.
Hoyt
W F
WF
Hoyt
C S
CS
Miller
N R
NR
Lam
B L
BL
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002829:Choroid / Q000002:abnormalities* / Q000473:pathology; D003103:Coloboma / Q000150:complications* / Q000473:pathology; D004677:Encephalocele / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D009898:Optic Disk / Q000002:abnormalities* / Q000473:pathology; D012160:Retina / Q000002:abnormalities* / Q000473:pathology; D015792:Retinal Dysplasia / Q000150:complications* / Q000473:pathology; D012189:Retrospective Studies