Pathophysiology of ocular manifestations in Wilson’s disease and its management

Abstract

Wilson’s disease (WD) is an inherited disorder affecting copper metabolism. Ocular manifestations, particularly Kayser-Fleischer rings and sunflower cataracts, are key diagnostic indicators. This article provides an overview of the pathophysiology of WD and describes current imaging techniques used for the detection and monitoring of the disease: Slit lamp examination, anterior segment optical coherence tomography, and in vivo confocal microscopy. It also touches on other rare ocular manifestations, which include retinal abnormalities, optic neuropathy, and oculomotor abnormalities, which are an extension of systemic symptoms. With the advent of new imaging techniques, the amount of corneal copper deposition can be quantified. Ocular manifestations are used to assess neurological symptoms and the extent of adherence to treatment. Patients suffering from WD are recommended to undergo comprehensive eye exams regularly. This article is a comprehensive literature review up to 2025 and provides an overview of WD for a multidisciplinary team of healthcare workers.

Keywords: Wilson disease; Ocular manifestation; Kayser-Fleischer ring; Sunflower cataract; Copper metabolism

Core Tip: Autosomal recessive ATP7B gene dysfunction in Wilson’s disease causes sequestered copper in hepatocytes to effect oxidative damage and necrosis, subsequently releasing into systemic circulation and reaching the eyes, brain, and kidneys. Free copper binds reversibly with metallothionein protein in the Descemet’s, causing Kayser-Fleischer rings (and anterior capsule, causing rare non-vision-threatening sunflower cataracts)-serving as clinical severity biomarkers for diagnosis and treatment compliance/responsiveness, especially among symptomatic adults. Gonioscopy, anterior segment optical coherence tomography, and confocal imaging strengthen the ophthalmologist’s diagnostic advantage over slit-lamp alone. Children with a family history of consanguinity need early screening due to subtle biochemical abnormalities and nonspecific neurological, behavioral, renal, and hematological symptoms, but they have a good chelation response and yet the possibility of fulminant complications.