Refsum's disease

  1. 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.