Refsum disease

Disease Overview

Refsum disease is an inherited condition that causes vision loss, loss 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. Other features can include bone abnormalities of the hands and feet; progressive muscle weakness and wasting; poor balance and coordination (ataxia); hearing loss; arrhythmias and heart abnormalities; and dry, scaly skin (ichthyosis). Refsum disease can result from mutations in the PHYH gene or the PEX7 gene and is inherited in an autosomal recessive pattern.[4643]

Synonyms

• Disorder of cornification 11 (phytanic acid type)
• Hereditary sensory and motor neuropathy type 4
• HMSN 4
• Heredopathia atactica polyneuritiformis
• Doc 11 (phytanic acid type)
• Hypertrophic neuropathy of Refsum
• Phytanic acid oxidase deficiency