Wilson's disease is an autosomal recessive hereditary metabolic disease with a pathological accumulation of copper in tissues. This study presents the case of a family, where two females and one male from among six siblings had this disease. While in the case of the two women only the liver was affected, the young man presented with both psychiatric and ophthalmic disorders. Modern examination methods (anterior segment optical coherence tomography, corneal topography, endothelial specular microscopy) were used to gather data on the corneal disorder that manifested with the classic Kayser-Fleischer ring. We underline the importance of ophthalmological checkup which may help to diagnose this disease. Orv Hetil. 2019; 160(14): 555-557.
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http://dx.doi.org/10.1556/650.2019.31363 | DOI Listing |
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