Refsum's disease: electron microscopy of an iris biopsy

Br J Ophthalmol. 1990 Jun;74(6):370-2. doi: 10.1136/bjo.74.6.370.

Abstract

Refsum's disease (phytanic acid storage disease) results in an accumulation of lipid as a result of an absence of mitochondrial hydroxylation of phytanic acid. We describe a previously unrecorded electron microscopic study of lipid deposition in the iris pigment epithelium of a patient with Refsum's disease, and lipid was present in other sites within the iris.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Biopsy
  • Humans
  • Iris / metabolism
  • Iris / ultrastructure*
  • Lipids / analysis
  • Male
  • Microscopy, Electron
  • Refsum Disease / metabolism
  • Refsum Disease / pathology*

Substances

  • Lipids