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Bilateral visual loss in craniodiaphysial dysplasia
Chi-Hoon Kim1, Dong Eun Oh, Yoon-Duck Kim
1Department of Ophthalmology, Sungkyunkwan University School of Medicine, Samsung Medical Center, Kangnam-ku, Seoul, Korea.
American Journal of Ophthalmology
|February 7, 2006
Summary
Craniodiaphysial dysplasia (CDD) can cause severe vision loss due to optic nerve compression. This rare bone disorder leads to blindness by affecting the optic canals.
Area of Science:
- Ophthalmology
- Genetics
- Radiology
Background:
- Craniodiaphysial dysplasia (CDD) is a rare skeletal disorder characterized by excessive bone formation.
- It primarily affects the skull and facial bones, leading to characteristic facial anomalies.
Observation:
- A 2-year-old girl with CDD presented with significant midfacial anomaly.
- Radiographs revealed marked thickening and sclerosis of the calvaria and facial bones, consistent with CDD.
- Two years later, she experienced profound vision loss in both eyes.
Findings:
- Visual acuity was reduced to light perception in both eyes.
- Ophthalmic examination showed optic disc swelling with temporal pallor.
- Orbital CT scans demonstrated near-total obliteration of the optic canals.
Implications:
- Bony encroachment on cranial foramina, particularly the optic canals, can cause optic nerve compression in CDD patients.
- This compression can lead to progressive visual impairment and irreversible blindness.
- Early recognition and management of CDD-related visual complications are crucial.
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