In most cases, however, cataracts can be surgically removed. The extent of vision loss with Refsum disease varies greatly depending on the levels of phytanic acid and the presence of cataracts. In addition to vision-related disorders, individuals with Refsum disease experience other sensory complications. Gradual or sudden hearing loss can occur in adulthood, usually after the third decade. In this type of inheritance, both parents, called carriers, have one gene for the disease paired with one normal gene.
Carriers are unaffected because they have only one copy of the gene.
At this time, it is difficult to determine who is a carrier for Refsum disease until after the birth of an affected child. However, slightly elevated levels of phytanic acid have been detected in some people thought to be carriers for Refsum disease. To help control these complications, it is important that patients maintain their body weight. Weight loss releases phytanic acid stored in body tissue and increases symptoms associated with the disease. Patients should be supervised by a physician to monitor blood levels of phytanic acid and adjust dietary regimens when appropriate.