Choroba Wilson'a - zmiany w narządzie wzroku
Wilson's Disease - Ophthalmic Symptoms
Dorota Białas-Niedziela, Andrzej Sawa, Dariusz Kęcik
Klinika Okulistyki I Wydziału Lekarskiego Warszawskiego Uniwersytetu Medycznego
Kierownik: prof. dr hab. n. med. Dariusz Kęcik
Summary: Wilson's disease (hepatolenticular degeneration) is an autosomal recessive disorder of copper metabolism in which copper accumulates in tissues. Mutation of ATP7B gene leads to reduced biliary excretion of copper and reduced incorporation of copper into ceruloplasmin, that induces accumulation and toxicity of copper in the liver, brain and other tissues. This manifests as neurological or psychiatric symptoms and also as deposits of copper in a ring around the cornea (Kayser–Fleischer sign) or sunflower cataract. As a disease, it is known since the beginning of the 20th century, but the diagnosis of Wilsons disease is still difficult and it is a great challenge for physicians. The symptoms of this disease have different clinical forms, the patients complain about hepatic, neurologic, psychiatric problems – mood swings or atypical metabolic disorders. Sometimes the ophthalmologist could help in diagnosis and treating this disorder, while not treated leads to death.
Słowa kluczowe: pierścień Kaysera-Fleischera, zwyrodnienie wątrobowo-soczewkowe, zaćma słonecznikowa, marskość wątroby.
Keywords: Kayser-Fleischer ring, hepatolenticular degeneration, sunflower cataract, liver cirrhosis.