In Refsum Syndrome, visual impairment is accompanied by hearing loss, neurological problems, heart problems, dry or flaky skin, loss of sense of smell, and oddly shaped red blood cells.
Refsum syndrome is caused by a genetic abnormality in the enzyme that breaks down phytanic acid, a type of fat commonly found in many foods. As a result, toxic levels of phytanic acid build up in the brain, blood, and other tissues including the retina. The diagnosis of Refsum syndrome can be made with a blood test to check the level of phytanic acid.
Although the disease usually appears in early childhood, some people will not develop symptoms until their 40’s or 50’s.
Phytanic acid is not produced by the body, but is only found in foods. Therefore life-long dietary restriction or avoidance of foods that contain phytanic acid, including dairy products and fatty fish, can be very helpful in the treatment of Refsum syndrome by reducing the chances of the condition worsening and occasionally leading to slight improvement.
Further detailed information on Refsum syndrome is available from