Refsum syndrome (heredopathia atactica polyneuritiformis syndrome; phytanic acid oxidase deficiency; phytanic acid storage disease; refsum-thiebaut syndrome)

General: Autosomal recessive; disorder of lipid metabolism; interstitial hypertrophic polyneuropathy; delamination of myelin sheaths; onset usually between ages 4 and 7 years; caused by deficiency of phytanic acid hydroxylase.

Ocular: Progressive external ophthalmoplegia; night blindness; visual field constriction; pupillary abnormalities; corneal opacities; retinal degeneration beginning in macula; retinitis pigmentosa; cataracts.

Clinical: Spinocerebellar ataxia; deafness (progressive); polyneuritis-like effect on limbs; central nervous system degeneration; ichthyosis; sensory changes; wasting of extremities; complete heart block; relapses and remissions in adolescence; normal intelligence.

Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982, 249.

Gibberd FB, et al. Heredopathia atactica polyneuritiformis (Refsum's disease) treated by diet and plasma exchange. Lancet 1979; 1:575-578.

Hansen E, et al. Refsum's disease. Eye manifestations in a patient treated with a low phytol, low phytanic acid diet. Acta Ophthalmol 1979; 57:899.

Refsum S. Heredo-ataxia hemeralopica polyneuritiformis familial syndrome. Acta Psychiatr Scand (Suppl) 1946; 38:1.

Smith LH. Inherited metabolic disease with Pediatric Ocular Manifestations. In: Albert DM, Jakobiec FA, eds. Principles and Practice of Ophthalmology. vol. V. Philadelphia: WB Saunders, 1994:2783.

Toussaint D, Danis P. An ocular pathologic study of Refsum's syndrome. Am J Ophthalmol 1971; 72:342.

Weleber RG, et al. Ophthalmic manifestations of infantile phytanic acid storage disease. Arch Ophthalmol 1984; 102:1317-l321.