Refsum Disease

Refsum disease is a rare inherited condition in which the body cannot break down a type of fatty acid, leading to a progressive retinal dystrophy and other neurological changes.

Common symptoms

Difficulty seeing in dim light, loss of side vision, reduced hearing, unsteadiness, weakness, dry or scaly skin, and changes in the sense of smell.

Description

Refsum disease is caused by genetic changes that affect enzymes needed to break down phytanic acid, a fatty acid found in certain foods. A build-up of phytanic acid damages the retina and nervous system over many years.

The first sign is often night blindness in childhood or young adulthood, followed by a gradually shrinking visual field similar to retinitis pigmentosa. Hearing loss, balance problems, nerve weakness, and skin changes are other key features that help distinguish Refsum from other inherited retinal conditions.

Management focuses on a special diet low in phytanic acid to slow or prevent further damage, with support from a specialist metabolic team and dietitian. Ophthalmology, audiology, and neurology follow-up, along with low vision aids and mobility support, all form part of long-term care.