Corneal involvement in Wilson's disease : an in vivo confocal microscopy study

Purpose:To study the corneal involvement in Wilson's disease (WD) patients by traditional clinical examination and in vivo laser scanning confocal microscopy (LSCM). Methods:Twenty consecutive WD patients and 20 age- and gender-matched control subjects underwent an ophthalmic examination in one eye randomly chosen, including slit-lamp biomicroscopy and three-mirror lens examination and LSCM of the upper peripheral cornea in order to determinate the presence of a copper deposition in the Descemet's membrane at the level of the sclero-corneal junction. Both biomicroscopical and confocal findings were graded (0-4) in a masked manner. Results:Both biomicroscopical and LSCM deposition grading showed substantial intra- and inter-observer agreement (K = 0.92 and 0.78 respectively (biomicroscopical), 0.89 and 0.82 respectively (LSCM). Kayser Fleischer ring (KFR) has been biomicroscopically detected in 6 (30%) WD patients (57% of neurological WD). At LSCM, 15 (75%) WD patients (85% of neurological WD) had hyper-reflective granular-like microdeposits at the level of upper peripheral Descemet’s membrane. No control subjects had corneal deposits at both biomicroscopical and LSCM examinations. A strong correlation (p<0.001, Spearman) was found between the biomicroscopical and the LSCM deposition grading. A significative correlation (p<0.01) was found between the LSCM deposits grading and urinary copper excretion. Conclusions:LSCM showed peripheral corneal copper deposits in all the patients with KFR and in several patients without clinically detectable abnormalities. It may provide important additive information in cases of suspected diagnosis and borderline corneal appearance in WD.