Clinical Snapshot
Kayser-Fleischer Corneal Ring in Wilson’s Disease
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A 50-year-old patient with hepatopathy of unknown origin (especially autoimmune hepatitis) was referred to our department for ophthalmological evaluation. Increased liver enzyme levels were first detected when he was 19 years old. The patient’s clinical history revealed unspecific symptoms such as fatigue, occasional itching, unintentional weight loss, and nausea. In a percutaneous liver biopsy sample, moderately active chronic hepatitis with periportal and septal fibrosis was noted, with no evidence of copper deposition. However, increased copper excretion (1468.0 μg/24 h) was found in the 24-hour urine sample and serum ceruloplasmin levels were decreased (0.11 g/L). The ophthalmological examination found bilateral, peripheral, circular, brownish corneal deposits, consistent with a Kayser-Fleischer ring (KFR). KFR is a component of the Leipzig score and its presence thus supported the diagnosis of Wilson’s disease. Wilson’s disease is characterized by radical-generating, tissue-toxic depositions of copper in the brain, liver and cornea (in the periphery of Descemet‘s membrane). Subsequent human genetic testing confirmed a homozygous mutation in exon 14 of the ATP7B gene (c.3 207C > A; p.His1 069 Gln). Due to supply bottlenecks for various medications, including D-penicillamine, treatment with trientine tetrahydrochloride (Cuprior) was initiated.
Dr. med. Marie D. Just, Klinik für Augenheilkunde, Universitätsklinikum Bonn
PD Dr. med. Johannes Chang, Medizinische Klinik und Poliklinik I, Universitätsklinikum Bonn und Cirrhose Centrum Bonn (CCB), Universitätsklinikum Bonn
Prof. Dr. med. Martina C. Herwig-Carl, Klinik für Augenheilkunde, Universitätsklinikum Bonn und Sektion Ophthalmopathologie, Universitätsklinikum Bonn, martina.herwig-carl@ukbonn.de
Conflict of interest statement: The authors declare no conflict of interest.
Translated from the original German by Ralf Thoene, MD.
Cite this as: Just MD, Chang J, Herwig-Carl MC: Kayser-Fleischer corneal ring in Wilson’s disease. Dtsch Arztebl Int 2024; 121: 544. DOI: 10.3238/arztebl.m2024.0048
