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Diagnosing Paraproteinemic Keratopathy: A Case Report.
Eugenie Mok1,2, Ka Wai Kam1,2, Anthony J Aldave3
1Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, New Territories, Hong Kong, Hong Kong, China.
Case Reports in Ophthalmology
|May 31, 2021
Summary
Paraproteinemic keratopathy, a rare cause of bilateral corneal opacities, was diagnosed in a patient via advanced imaging and genetic testing. This ocular finding led to the systemic diagnosis of monoclonal gammopathy of undetermined significance.
Area of Science:
- Ophthalmology
- Hematology
- Medical Diagnostics
Background:
- Bilateral corneal opacities can stem from various conditions, including rare genetic disorders and systemic diseases.
- Accurate diagnosis is crucial to differentiate from common corneal dystrophies or scars.
Observation:
- A 65-year-old man presented with progressive, painless blurred vision due to bilateral corneal opacities.
- Anterior segment imaging (OCT, IVCM) revealed characteristic hyperreflective deposits in the cornea.
- Serum protein electrophoresis identified immunoglobulin kappa paraproteins.
Findings:
- Molecular genetic testing excluded mutations in known corneal dystrophy genes (TGFBI, COL17A1).
- The combination of ocular findings and serological results led to a diagnosis of paraproteinemic keratopathy.
- This ocular diagnosis prompted a systemic evaluation, revealing monoclonal gammopathy of undetermined significance.
Implications:
- Paraproteinemic keratopathy is an important, albeit rare, differential diagnosis for bilateral corneal opacities of unknown etiology.
- Integrated diagnostic approaches, including serological and genetic testing alongside advanced imaging, are vital for identifying this condition.
- Early diagnosis of paraproteinemic keratopathy can facilitate timely management of the underlying systemic condition.
