Ophthalmologic Examination in Wilson’s Disease Detection
Eye examination plays a unique role in diagnosing Wilson’s disease. The presence of Kayser–Fleischer rings is one of the most recognizable signs and can be detected through slit-lamp examination.
These rings result from copper deposition in the cornea and are particularly common in patients with neurological symptoms. Their presence strongly supports a diagnosis of Wilson’s disease.
However, absence of Kayser–Fleischer rings does not rule out the condition. Many patients with liver-predominant disease may not exhibit visible ocular findings.
Ophthalmologic evaluation is non-invasive and provides valuable diagnostic support. When combined with biochemical and genetic testing, it strengthens overall diagnostic accuracy.
