Kayser-Fleischer ring in Wilson's disease: a cohort study.

Area of Science:

• Neurology
• Ophthalmology
• Genetics

Background:

• Wilson disease (WD) is a rare genetic disorder characterized by copper accumulation.
• Kayser-Fleischer (KF) rings are a hallmark clinical sign of WD, typically found in the cornea.
• Understanding the significance of KF rings in WD progression and treatment response is crucial.

Purpose of the Study:

• To investigate the characteristics of Kayser-Fleischer (KF) rings in Sardinian patients with Wilson disease (WD).
• To assess the correlation between KF ring modifications and anti-copper therapy.
• To evaluate the relationship between KF ring status and the systemic evolution of WD.

Main Methods:

• Retrospective study of 67 WD patients (35 male/32 female, mean age 41).
• Comprehensive ophthalmologic, neurologic, brain MRI, ECD SPECT, laboratory, and hepatic histological examinations at diagnosis and follow-up.
• All patients received anti-copper therapy (d-Penicillamine +/- Zinc Salts).

Main Results:

• KF rings were present at diagnosis in 27% of patients, with equal distribution across age groups.
• Significant correlations were found between KF at diagnosis and neurological/neuro-imaging findings.
• KF regression occurred in 14% of patients during follow-up; anti-copper therapy induced regression and prevented KF onset.
• No significant correlation was observed between KF regression and clinical neurological or hepatic improvement.

Conclusions:

• Sardinian WD patients exhibit unique features, including low KF prevalence and equal age distribution.
• KF rings at diagnosis correlate significantly with neurological manifestations and brain imaging pathology.
• Anti-copper therapy effectively induces KF regression and prevents its appearance, suggesting KF's role as a predictive factor in WD neurological and hepatic evolution.