Refsum Disease is an inherited condition causing mainly vision loss and a change in the sense of smell. The condition is inherited in families. Both parents have to carry a defective gene and transfer it to the child in order for the disease to be transferred to them. 

The disease is caused by a defect in the genes, causing a buildup of a material called phytanic acid. You get this material from your diet, especially from beef and dairy products. This material is usually broken down by the body. In Refsum disease, this process doesn’t work properly, causing it to not break down and instead accumulate in the body. Since this material is toxic to our cells, it causes the disruption in sight and smell, as well as other symptoms.

 There are several things which occur in this disease: 

• Vision loss: It starts with loss of night vision, and later affects peripheral vision, making you see only what’s in front of you (a situation called “tunnel vision”).
• Anosmia (loss of the sense of smell) or dysosmia (smelling things differently than how they really smell).
• Problems with the bones in the hands and feet 
• Muscle weakness and wasting
• Poor balance and coordination – called ataxia
• Hearing loss
• Dry, scaly skin (called ichthyosis)
• Some develop an abnormal heart rhythm (arrhythmia) and other heart problems that can be life-threatening.

There is no direct treatment. People with Refsum disease are advised to avoid foods that contain phytanic acid. These foods include dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. Some symptoms, such as muscle weakness and the skin problem, disappear with treatment. Others, unfortunately, don’t. This includes the vision, smelling and hearing problems, that may persist.