The eye in Wilson‘s disease: sunflower cataract associated with Kayser-Fleischer ring

Abstract

We have identified a 20-year-old Mulatto female with progressive neurological disease for the past 4 years, initially presenting as tremors of the upper extremities and dysarthria. Later, she developed risus sardonicus, severe postural tremors, arthralgia, bilateral Kayser-Fleischer (KF) rings and sunflower cataracts (left figure). The serum ceruloplasmin was 5.1 mg/dl (normal 20–35 mg/dl); urinary copper excretion was 152 μg/24 h (normal less than 40 μg/24 h); prothrombin time was 54%, while serum bilirubin, liver enzymes and hepatic synthesis function were otherwise unremarkable. She had no signs of portal hypertension. Based on the exploratory and laboratory findings, the diagnosis of Wilson's disease (WD) was established. After 12 months of d-penicillamine treatment, neurological symptoms and KF rings regressed partially, and the sunflower cataracts disappeared (right figureView Large Image Figure ViewerDownload (PPT)). KF rings reflecting copper deposition in the Descemet's membrane occur in at least 85% of patients with the neurological presentation of the WD. On the other hand, sunflower cataracts, another characteristic feature of WD, are very rare. They result from copper deposits in the anterior and posterior capsule, while the epithelial and cortical cells of the lens are spared [[1]Tso M.O. Fine B.S. Thorpe H.E. Kayser-Fleischer ring and associated cataract in Wilson's disease.Am J Ophthalmol. 1975; 79: 479-488Abstract Full Text PDF PubMed Scopus (29) Google Scholar]. Sunflower cataracts associated with KF rings in WD patients were first described in 1922 by Seimerling and Oloff [[2]Siemerling E. Oloff H. Pseudosklerose (Westphal-Strümpell) mit Cornealring (Kayser-Fleischer) und doppelseitiger Scheinkatarakt, die nur bei seitlicher Beleuchtung sichtbar ist und die dem nach Verletzung durch Kupfersplitter entstehenden Katarakt ähnlich ist.Klin Wochenschr. 1922; i: 1087-1089Crossref Scopus (24) Google Scholar]. They observed a striking similarity between these lesions and those induced by a copper-containing foreign body lodged in the eye, giving an essential historical clue to the disease's pathogenesis. Clinicians have to be aware of this opacity of the lens in the shape of a sunflower, since it: (i) may decrease visual acuity; and (ii) can provide an additional diagnostic clue. Remarkably, adequate decoppering therapy will lead to complete resolution of this potentially harmful manifestation of WD.