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Familial hypophosphatemic rickets causing ocular calcification and optic canal narrowing
K S Caldemeyer1, R R Smith, M K Edwards-Brown
1Department of Radiology, Indiana University School of Medicine, Indianapolis 46202-5253, USA.
AJNR. American Journal of Neuroradiology
|June 1, 1995
Summary
Familial hypophosphatemic rickets caused bone thickening, narrowing optic canals, and leading to optic atrophy. Metastatic calcification also occurred in the globes of the eyes.
Area of Science:
- Ophthalmology
- Genetics
- Endocrinology
Background:
- Familial hypophosphatemic rickets (FHR) is a rare genetic disorder.
- It affects phosphate metabolism and bone mineralization.
Observation:
- A patient with FHR presented with severe bone thickening.
- This bone thickening led to significant narrowing of the optic canals.
Findings:
- The optic canal narrowing resulted in bilateral optic atrophy, impacting vision.
- Metastatic calcification was observed within the walls of both globes.
Implications:
- This case highlights the potential ocular complications of FHR.
- Understanding these complications is crucial for managing FHR patients and preventing vision loss.