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[Diagnosis of Kayser Fleischer Ring: Can Early Diagnosis Improve the Outcome of Wilson's Disease?]

Abstract

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.

Authors+Show Affiliations

Augenheilkunde, Universitätsklinikum Hamburg-Eppendorf, Hamburg.Augenheilkunde, Universitätsklinikum Hamburg-Eppendorf, Hamburg.Augenheilkunde, Universitätsklinikum Hamburg-Eppendorf, Hamburg.Augenheilkunde, Universitätsklinikum Hamburg-Eppendorf, Hamburg.

Pub Type(s)

English Abstract
Journal Article

Language

ger

PubMed ID

31266073

Citation

Bigdon, Eileen, et al. "[Diagnosis of Kayser Fleischer Ring: Can Early Diagnosis Improve the Outcome of Wilson's Disease?]." Klinische Monatsblatter Fur Augenheilkunde, 2019.
Bigdon E, Feuerstacke J, Steinhorst NA, et al. [Diagnosis of Kayser Fleischer Ring: Can Early Diagnosis Improve the Outcome of Wilson's Disease?]. Klin Monbl Augenheilkd. 2019.
Bigdon, E., Feuerstacke, J., Steinhorst, N. A., & Spitzer, M. (2019). [Diagnosis of Kayser Fleischer Ring: Can Early Diagnosis Improve the Outcome of Wilson's Disease?]. Klinische Monatsblatter Fur Augenheilkunde, doi:10.1055/a-0898-3923.
Bigdon E, et al. [Diagnosis of Kayser Fleischer Ring: Can Early Diagnosis Improve the Outcome of Wilson's Disease?]. Klin Monbl Augenheilkd. 2019 Jul 2; PubMed PMID: 31266073.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Diagnosis of Kayser Fleischer Ring: Can Early Diagnosis Improve the Outcome of Wilson's Disease?] AU - Bigdon,Eileen, AU - Feuerstacke,Jana, AU - Steinhorst,Nils Alexander, AU - Spitzer,Martin, Y1 - 2019/07/02/ PY - 2019/7/3/entrez PY - 2019/7/3/pubmed PY - 2019/7/3/medline JF - Klinische Monatsblatter fur Augenheilkunde JO - Klin Monbl Augenheilkd 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. SN - 1439-3999 UR - https://www.unboundmedicine.com/medline/citation/31266073/[Diagnosis_of_Kayser_Fleischer_Ring:_Can_Early_Diagnosis_Improve_the_Outcome_of_Wilson's_Disease] L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/a-0898-3923 DB - PRIME DP - Unbound Medicine ER -