Refsum’s disease is a recessive disorder primarily caused by mutation of the gene for the peroxisomal enzyme phytanoyl-CoA hydroxylase (PHYH) and is clinically characterized by CA, peripheral polyneuropathy, sensorineural deafness, retinitis pigmentosa and anosmia with skeletal abnormalities, ichthyosis, renal failure, cardiomyopathy or arrhythmias. Here, PHYH is linked to retinitis pigmentosa.