Kayser-Fleischer-Ring – kann eine frühe Diagnosestellung den Krankheitsverlauf von Morbus Wilson verbessern?

TY - JOUR

T1 - Kayser-Fleischer-Ring – kann eine frühe Diagnosestellung den Krankheitsverlauf von Morbus Wilson verbessern?

AU - Bigdon, Eileen

AU - Feuerstacke, Jana

AU - Steinhorst, Nils Alexander

AU - Spitzer, Martin

N1 - Georg Thieme Verlag KG Stuttgart · New York.

PY - 2019

Y1 - 2019

N2 - Wilson's disease is a rare genetic disease of copper metabolism that leads to increased accumulation of copper in the body. Deposits are found mainly in the liver, brain and eye. If left untreated, the disease can lead to movement disorders, personality changes, liver failure and even death. There are many possible differential diagnoses. Diagnosis can only be made through specific test procedures. The ophthalmologist therefore has a special role in the early detection of a Wilson's disease. In our clinic, a 19-year old female patient presented with a faint Kayser-Fleischer corneal ring with otherwise normal ophthalmological findings. The patient had progressive liver failure and received a liver transplant two months after first presentation in the eye clinic. An early ophthalmological co-evaluation with a thorough examination is of great importance for rapid diagnosis. The copper deposits are found in the Descemet membrane and begin in the Schwalbe's line. The so-called Kayser-Fleischer ring can be seen on the Descemet membrane up to 5 mm away from the limbus. Other possible ophthalmological manifestations are chalcosis of the entire Descemet, icterus of the sclera or a sunflower cataract. In the absence of copper deposits in the slit lamp examination, gonioscopy should always be performed if Wilson's disease is suspected. Early diagnosis can protect patients from unnecessary complications and operations. Wilson's disease has a good prognosis if treated.

AB - Wilson's disease is a rare genetic disease of copper metabolism that leads to increased accumulation of copper in the body. Deposits are found mainly in the liver, brain and eye. If left untreated, the disease can lead to movement disorders, personality changes, liver failure and even death. There are many possible differential diagnoses. Diagnosis can only be made through specific test procedures. The ophthalmologist therefore has a special role in the early detection of a Wilson's disease. In our clinic, a 19-year old female patient presented with a faint Kayser-Fleischer corneal ring with otherwise normal ophthalmological findings. The patient had progressive liver failure and received a liver transplant two months after first presentation in the eye clinic. An early ophthalmological co-evaluation with a thorough examination is of great importance for rapid diagnosis. The copper deposits are found in the Descemet membrane and begin in the Schwalbe's line. The so-called Kayser-Fleischer ring can be seen on the Descemet membrane up to 5 mm away from the limbus. Other possible ophthalmological manifestations are chalcosis of the entire Descemet, icterus of the sclera or a sunflower cataract. In the absence of copper deposits in the slit lamp examination, gonioscopy should always be performed if Wilson's disease is suspected. Early diagnosis can protect patients from unnecessary complications and operations. Wilson's disease has a good prognosis if treated.

U2 - 10.1055/a-0898-3923

DO - 10.1055/a-0898-3923

M3 - SCORING: Zeitschriftenaufsatz

C2 - 31266073

JO - KLIN MONATSBL AUGENH

JF - KLIN MONATSBL AUGENH

SN - 0023-2165

ER -