Diagnosing Paraproteinemic Keratopathy: A Case Report
A 65-year-old man presented with bilateral, painless, progressive blurring of vision over 9 years. Slit-lamp examination revealed bilateral subepithelial corneal opacities in clusters located at the mid-periphery. Anterior segment optical coherence tomography, in vivo confocal microscopy (IVCM), ser...
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| Format: | Article |
| Language: | English |
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Karger Publishers
2021-05-01
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| Series: | Case Reports in Ophthalmology |
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| Online Access: | https://www.karger.com/Article/FullText/514375 |
| _version_ | 1818662227866025984 |
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| author | Eugenie Mok Ka Wai Kam Anthony J. Aldave Alvin L. Young |
| author_facet | Eugenie Mok Ka Wai Kam Anthony J. Aldave Alvin L. Young |
| author_sort | Eugenie Mok |
| collection | DOAJ |
| description | A 65-year-old man presented with bilateral, painless, progressive blurring of vision over 9 years. Slit-lamp examination revealed bilateral subepithelial corneal opacities in clusters located at the mid-periphery. Anterior segment optical coherence tomography, in vivo confocal microscopy (IVCM), serum protein electrophoresis, and molecular genetic testing were performed to evaluate the cause of corneal opacities. Anterior segment optical coherence tomography revealed a band-like, hyperreflective lesion in the Bowman layer and anterior stroma of both corneas. IVCM revealed hyperreflective deposits in the epithelium, anterior stroma, and endothelium. Serum protein electrophoresis identified the presence of paraproteins (immunoglobulin kappa), and molecular genetic testing revealed absence of mutations in the transforming growth factor beta-induced gene (TGFBI) and collagen type XVII alpha 1 gene (COL17A1). The ocular diagnosis of paraproteinemic keratopathy eventually led to a systemic diagnosis of monoclonal gammopathy of undetermined significance by our hematologist/oncologist. Paraproteinemic keratopathy is a rare differential diagnosis in patients with bilateral corneal opacities and therefore may be misdiagnosed as corneal dystrophy or neglected as scars. In patients with bilateral corneal opacities of unknown cause, serological examination, adjunct anterior segment imaging, and molecular genetic testing play a role in establishing the diagnosis. |
| first_indexed | 2024-12-17T04:57:36Z |
| format | Article |
| id | doaj.art-f87a11dc287d4c6391ce8e493a6b42b6 |
| institution | Directory Open Access Journal |
| issn | 1663-2699 |
| language | English |
| last_indexed | 2024-12-17T04:57:36Z |
| publishDate | 2021-05-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Ophthalmology |
| spelling | doaj.art-f87a11dc287d4c6391ce8e493a6b42b62022-12-21T22:02:39ZengKarger PublishersCase Reports in Ophthalmology1663-26992021-05-0112233734310.1159/000514375514375Diagnosing Paraproteinemic Keratopathy: A Case ReportEugenie Mok0Ka Wai Kam1Anthony J. Aldave2Alvin L. Young3Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, New Territories, Hong Kong, Hong Kong, ChinaDepartment of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, New Territories, Hong Kong, Hong Kong, ChinaStein Eye Institute, The University of California, Los Angeles, CA, USADepartment of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, New Territories, Hong Kong, Hong Kong, ChinaA 65-year-old man presented with bilateral, painless, progressive blurring of vision over 9 years. Slit-lamp examination revealed bilateral subepithelial corneal opacities in clusters located at the mid-periphery. Anterior segment optical coherence tomography, in vivo confocal microscopy (IVCM), serum protein electrophoresis, and molecular genetic testing were performed to evaluate the cause of corneal opacities. Anterior segment optical coherence tomography revealed a band-like, hyperreflective lesion in the Bowman layer and anterior stroma of both corneas. IVCM revealed hyperreflective deposits in the epithelium, anterior stroma, and endothelium. Serum protein electrophoresis identified the presence of paraproteins (immunoglobulin kappa), and molecular genetic testing revealed absence of mutations in the transforming growth factor beta-induced gene (TGFBI) and collagen type XVII alpha 1 gene (COL17A1). The ocular diagnosis of paraproteinemic keratopathy eventually led to a systemic diagnosis of monoclonal gammopathy of undetermined significance by our hematologist/oncologist. Paraproteinemic keratopathy is a rare differential diagnosis in patients with bilateral corneal opacities and therefore may be misdiagnosed as corneal dystrophy or neglected as scars. In patients with bilateral corneal opacities of unknown cause, serological examination, adjunct anterior segment imaging, and molecular genetic testing play a role in establishing the diagnosis.https://www.karger.com/Article/FullText/514375corneacorneal hazeoptical coherence tomography |
| spellingShingle | Eugenie Mok Ka Wai Kam Anthony J. Aldave Alvin L. Young Diagnosing Paraproteinemic Keratopathy: A Case Report Case Reports in Ophthalmology cornea corneal haze optical coherence tomography |
| title | Diagnosing Paraproteinemic Keratopathy: A Case Report |
| title_full | Diagnosing Paraproteinemic Keratopathy: A Case Report |
| title_fullStr | Diagnosing Paraproteinemic Keratopathy: A Case Report |
| title_full_unstemmed | Diagnosing Paraproteinemic Keratopathy: A Case Report |
| title_short | Diagnosing Paraproteinemic Keratopathy: A Case Report |
| title_sort | diagnosing paraproteinemic keratopathy a case report |
| topic | cornea corneal haze optical coherence tomography |
| url | https://www.karger.com/Article/FullText/514375 |
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