The eye in Wilson disease

Abstract

Although the distinctive and diagnostically valuable signs present in the eyes of patients with symptomatic Wilson disease have been described in specialist journals and in monographs1,2 on this disease, they have received little attention in the general literature. Furthermore, they have not been definitively illustrated. These are the Kayser–Fleischer (KF) rings (Figure 1) and the sunflower cataracts. As a result, many physicians, although they know of such signs, have never seen them or as a result may have missed them when present, as did Wilson3 himself in his original description of the disease which now bears his name. Indeed, for many years he denied that they were related to this condition. The rings were first described by Kayser in 1902 and then by Fleischer in 1909.4,5 The fact that the rings are composed of copper was finally established by Gerlach and Rohsrschneider as late as 1949,6 shortly after Cumings7 had demonstrated that excess copper was deposited in the brains and livers of patients dying of this disease. That the corneal rings were indeed due to copper deposition was confirmed by Sternlieb.8 Originally, it was believed that the presence of such copper containing rings were diagnostic of Wilson disease but in 1975 Fleming and his associates9 were able to show that …