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


METHODS
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.
Kim
Chi-Hoon
CH
Department of Ophthalmology, Sungkyunkwan University School of Medicine, Samsung Medical Center, Kangnam-ku, Seoul, Korea.
Oh
Dong Eun
DE
Kim
Yoon-Duck
YD
D001766:Blindness / Q000209:etiology*; D003966:Camurati-Engelmann Syndrome / Q000150:complications* / Q000000981:diagnostic imaging; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000150:complications* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D015576:Hyperostosis / Q000150:complications* / Q000000981:diagnostic imaging; D009896:Optic Atrophy / Q000209:etiology; D010026:Osteosclerosis / Q000150:complications / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed; D014792:Visual Acuity