Kayser-Fleischer Ring

Excerpt

Kayser-Fleischer rings are a common ophthalmological finding in patients with Wilson disease—a genetic disorder that affects copper metabolism in the body. Usually evident in late childhood or early adolescence, these rings develop due to excess copper deposition on the inner surface of the cornea within the Descemet membrane (see Image. Kayser-Fleischer Rings From Copper Deposits). Occasionally, Kayser-Fleischer rings may manifest in patients with other conditions, such as primary biliary cholangitis, neonatal cholestasis, and liver disease. Additional complications include psychiatric illnesses, neurological symptoms, cardiomyopathy, infertility, and hemolytic anemia. Without proper treatment, Wilson disease can progress to cirrhosis and liver failure, ultimately resulting in death.

Kayser-Fleischer rings are not specific to Wilson disease, and they can be found in patients with primary biliary cholangitis and children with neonatal cholestasis. Despite initial beliefs that the rings were caused due to silver buildup, in 1934, researchers discovered that the rings actually contained copper. Kayser-Fleischer rings do not typically cause visual impairment and can be resolved through treatment. However, they may reappear with disease progression, serving as valuable indicators of the patient's response to therapy and adherence to treatment. A slit-lamp examination is essential to diagnose Kayser-Fleischer rings, especially in the early stages, unless the rings are visible to the naked eye in conditions of severe copper overload (see Images. Kayser-Fleischer Rings and Kayser-Fleischer Rings (Labeled)). Prompt recognition of Kayser-Fleischer rings, evaluation of the underlying cause, and management of excess copper levels are crucial in reducing patient morbidity and mortality.