Refsum's disease

[ rĕfsəmz ]


A rare inherited metabolic disorder characterized by a buildup of phytanic acid in tissues and a manifestation of such conditions as retinitis pigmentosa, polyneuritis, deafness, and nystagmus.

The American Heritage® Stedman's Medical Dictionary Copyright © 2002, 2001, 1995 by Houghton Mifflin Company. Published by Houghton Mifflin Company.