Acute-Onset Visual Impairment in Wilson's Disease: A Case Report and Literature Review

Abstract

ObjectiveWe reported the case of a patient with Wilson's disease (WD) with acute-onset visual impairment and summarized previously reported cases to make physicians aware of the complicated clinical expressions of WD and improve diagnosis efficiency.MethodsThe patient was recruited from the Second Affiliated Hospital of Zhejiang University School of Medicine. Clinical data, including cranial images, laboratory tests, and ophthalmic findings were obtained. The PubMed database was searched for published cases of WD with visual impairment.ResultsWe reported a 22-year-old male who presented with hand tremor, personality change, and acute-onset binocular vision blurring. WD was considered to be closely correlated with neuropsychiatric and ocular involvements. After low-copper diet and regular copper-chelation therapy, the related symptoms improved compared to before. Six WD cases of optic neuropathy have been reported, including ours. The patients usually had neurological and/or hepatic symptoms for a period without any treatment. All the reported cases manifested as acute episodes of visual changes, and the ocular manifestations improved after copper-chelation treatment.ConclusionsExcess copper accumulation may be a rare cause of visual impairment in patients with WD. While the etiology behind patients' acute-onset visual impairment remained uncertain, the possibility of WD should be considered through neuropsychiatric and hepatic symptoms, corneal K-F rings, decreased serum ceruloplasmin, and low likelihood or exclusion of other causes. Clinicians need to recognize this rare manifestation and give appropriate treatment to avoid misdiagnosis and unnecessary overtreatment.

The Role of Zinc in the Treatment of Wilson’s Disease

“…Disease results due to the toxicity of the deposited copper and/or the oxidative stress from reactive oxygen species (ROS) formed by the non-ceruloplasmin-bound copper [ 1 , 2 , 3 ]. Presentation is initially recognized due to hepatic (30–50%), neurologic (30–40%), or psychiatric/behavioral (30–40%) disturbances [ 4 ], although ophthalmological, renal, cardiac, osteoarticular, hematologic, endocrine, and sleep disturbances can also occur [ 5 , 6 , 7 ]. The disease presents predominantly between the ages of 5 and 35, although it has also been reported between the ages of 2 and 80 [ 8 ].…”