Scheimpflug Imaging of the Danish Cohort of Patients With Wilson Disease.

PURPOSE: The purpose of this study was to investigate the use of anterior segment imaging in diagnosing Kayser-Fleischer rings in patients with Wilson disease.

METHODS

In a tertiary center for Wilson disease, patients were examined with a Pentacam HR Scheimpflug-based tomography device in addition to conventional slit-lamp examination. The inferior part of the cornea was analyzed using both a built-in densitometry module and ImageJ.

RESULTS

Thirty-one patients with Wilson disease (78% of all Danish patients) were included, resulting in 83 examinations over a 5-year period. Ten had a manifest Kayser-Fleischer ring in the inferior part of the cornea on at least 1 examination, 5 had other causes of peripheral corneal scatter, and 16 had normal examinations. The built-in densitometry module performed poorly in discriminating between the presence and absence of a Kayser-Fleischer ring. However, analysis of the images in ImageJ and calculation of a normalized signal (peak posterior value/peak anterior value) with a cutoff value set to 1 detected 28 of 31 Kayser-Fleischer rings and resulted in 96% sensitivity and 95% specificity. In 12 patients who underwent 3 or more examinations during the period, changes in the normalized signal seemed to reflect the efficiency of the treatment, although more studies are needed for this conclusion.

CONCLUSIONS

ImageJ-based analysis of Pentacam images has a high sensitivity in detecting Kayser-Fleischer rings and can be used as a diagnostic procedure for Wilson disease and may be a tool to monitor the disease in an objective manner.