Do you know anyone with Refsums disease?BMJ 1996; 312 doi: https://doi.org/10.1136/bmj.312.7043.1388 (Published 01 June 1996) Cite this as: BMJ 1996;312:1388
Refsums disease is a recessive genetic disorder in which the patient is unable to break down phytanic acid in the body. The main manifestations are retinitis pigmentosa and peripheral neuropathy, although other problems can occur such as anosmia, ichthyosis, deafness, ataxia, cardiac arrhythmias, and, less commonly, congenital abnormalities.
The disease is rare so diagnosis may be difficult. I was eventually diagnosed as having the disease in 1994 when I was 27, although I had been ill since I was 14 and had been diagnosed as having first rheumatoid arthritis and then a psychiatric disorder.
There may be other people with Refsums disease who have had difficulties being diagnosed and getting the appropriate help. I am planning to produce an information booklet and to set up a network of sufferers from the disease. If you know anyone who may be interested please contact me in writing at the following address: Ms Sandra Ruckley, RNIB Redhill College, Philanthropic Road, Redhill, Surrey RH1 4DG.