Information for patients, their families and helpers
Adult Refsum's disease - the facts
Adult Refsum's disease is a rare condition, which was first fully described in the 1960s, which affects about 1 person in one million.
People with the condition were noticed to show a slow loss of vision starting with difficulty in being able to see at night in their teenage years (night blindness). Often they would give up going out at night as they would tend to bump into things or fall over. During the day they would notice they were less able to play sports or catch a ball than a few years previously. As the years went by these symptoms became more severe and other things began to be noticed - difficulty in walking straight (ataxia), itchy scaly skin (ichthyosis), difficulty hearing clearly (sensorineural deafness), and funny feelings in the hands and feet (neuropathy). Many people would get these signs allied with a general feeling of not being at all well when they got colds or other infections and had not been eating for a few days.
Eventually some or all of these symptoms took them to their local doctor and then on to a hospital where they saw a specialist neurologist or ophthalmologist. At this point, it would be noticed that the back of the eye (the retina) was not normal (retinitis pigmentosa), they often had cataracts in the eyes, and their pupils were small and did not open up with the eye drops used to help look at the back of the eye. More generally it might be noticed that they had funny short toes or fingers (short metacarpals/metatarsals), which they had had since birth and may have had operations on to correct, as well as difficulties with walking, feeling sensations and scaly skin. At this point a number of blood tests would be ordered, including one to test for adult Refsum's disease (phytanic acid). Some clinics would investigate their sense of smell and find that they actually had a very poor sense of smell (anosmia), though they had often not noticed it as it had been there so long. Once the diagnosis had been made, they would be started on a diet, which reduced the amount of phytanic acid entering their bodies. This diet would help to clear up the walking, nerve and skin problems quickly and would slow down the progression of the eye and hearing changes.
In some people, the adult Refsum's disease would have progressed even further
and they would be admitted to hospital after becoming very weak following
an infection or a period of not eating for a few days. After admission it
would be noted that they had changes in the eyes, problems with balance and
skin, and odd-looking fingers and toes, and the diagnosis would be made. Once
the diagnosis was made they would have therapy with blood dialysis (plasmapheresis)
and then have their diet assessed and changed to reduce their intake of phytanic
The following pages address some more specific questions about adult Refsum's disease.
Page last updated 26 June 2006