Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina, the light-sensitive layer at the back of the eye. Vision loss occurs as the light-sensing cells of the retina gradually deteriorate. Features that appear later in life can include progressive muscle weakness and wasting, poor balance and coordination (ataxia), hearing loss, and dry, scaly skin (ichthyosis). Additionally, some people with Refsum disease develop an abnormal heart rhythm (arrhythmia) and related heart problems that can be life-threatening.
HOW IS REFSUM DISEASE DIAGNOSED?
Diagnosis is done by checking for the presence of phytanic acid in blood or urine
HOW IS REFSUM DISEASE TREATED?
Patients affected with Refsum Disease are usually placed on a diet that has restricted levels of phytanic acid. They are also advised to cut down on fat from ruminant fish and tuna fish.
DID YOU KNOW?
Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%.