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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
Fabry disease and chemosis
Jayson D Edwards1, Kraig S Bower, Dain B Brooks
1Ophthalmology Service, Walter Reed Army Medical Center, Washington, DC 20307-5001, USA. jayson.edwards@amedd.army.mil
Cornea
|January 23, 2009
Summary
Fabry disease (FD) can manifest as chronic chemosis, a condition previously unrecognized. This case highlights FD as a potential cause of persistent eye swelling, even without typical FD ocular signs.
Area of Science:
- Ophthalmology
- Genetics
- Rare Diseases
Background:
- Fabry disease (FD) is a rare genetic lysosomal storage disorder.
- Ocular manifestations of FD are common but typically include corneal verticillata and conjunctival abnormalities.
- Chronic chemosis is not a widely recognized ocular sign of FD.
Observation:
- A 51-year-old male with known FD on enzyme replacement therapy presented with unilateral chronic chemosis.
- Ocular examination revealed noninflammatory chemosis, conjunctival tortuosity, and microaneurysms.
- Standard investigations ruled out other causes of chemosis.
Findings:
- Conjunctival fluorescein angiography showed rapid dye accumulation in the subconjunctival space.
- Angiography did not reveal active leakage from conjunctival vessels or microaneurysms.
- The patient also had mild corneal verticillata and spoke-like lens opacities.
Implications:
- This case suggests that chronic chemosis may be an underrecognized ocular manifestation of Fabry disease.
- FD should be considered in the differential diagnosis of unexplained chronic chemosis.
- Further research is needed to elucidate the pathophysiology of chemosis in FD.
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