Refsum Disease is a rare genetic disorder caused by the accumulation of phytanic acid in the body. This occurs due to a deficiency in the enzyme phytanoyl-CoA hydroxylase, which is essential for breaking down phytanic acid, a type of fatty acid found in certain foods. Symptoms can include vision problems, hearing loss, and neurological issues, often leading to progressive disability. Diagnosis typically involves measuring phytanic acid levels in the blood, and treatment focuses on dietary management. Patients are advised to avoid foods high in phytanic acid, such as dairy products and certain fish. Early intervention can help manage symptoms and improve quality of life.