Bilateral visual loss in craniodiaphysial dysplasia.

PURPOSE: To report a rare case of craniodiaphysial dysplasia (CDD) that resulted in a profound loss of vision in both eyes.

DESIGN

Observational case report.

METHODS

A 2-year-old girl presented with midfacial anomaly. Marked thickening and sclerosis in the calvaria and facial bones were detected on the plain x-rays, which were compatible with CDD. Two years later, she visited our clinic because of visual loss in both eyes.

RESULTS

The visual acuity was light perception in both eyes. The optic disk swelling with temporal pallor was observed in her both eyes. Orbital computed tomography scan revealed near-total obliteration of the optic canal in both eyes.

CONCLUSIONS

CDD is a severe bone disorder characterized by massive generalized hyperostosis and sclerosis, especially involving the facial bones. Bony encroachment on the cranial foramina causes optic nerve compression, and this may lead to progressive visual impairment and ultimately to blindness.