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Br J Ophthalmol. 1990 June; 74(6): 370–372.
PMCID: PMC1042131

Refsum's disease: electron microscopy of an iris biopsy.


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.

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Selected References

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  • Flament-Durand J, Noel P, Rutsaert J, Toussaint D, Malmendier C, Lyon G. A case of Refsum's disease: clinical, pathological, ultrastructural and biochemical study. Pathol Eur. 1971;6(2):172–191. [PubMed]
  • Fardeau M, Engel WK. Ultrastructural study of a peripheral nerve biopsy in Refsum's disease. J Neuropathol Exp Neurol. 1969 Apr;28(2):278–294. [PubMed]
  • Levy IS. Refsum's syndrome. Trans Ophthalmol Soc U K. 1970;90:181–186. [PubMed]
  • Toussaint D, Danis P. An ocular pathologic study of Refsum's syndrome. Am J Ophthalmol. 1971 Aug;72(2):342–347. [PubMed]
  • McCartney AC, Bull TB, Spalton DJ. Fuchs' heterochromic cyclitis: an electron microscopy study. Trans Ophthalmol Soc U K. 1986;105(Pt 3):324–329. [PubMed]
  • Zinn KM, Mockel-Pohl S, Villanueva V, Furman M. The fine structure of iris melanosomes in man. Am J Ophthalmol. 1973 Nov;76(5):721–729. [PubMed]
  • Leat WM, Curtis R, Millichamp NJ, Cox RW. Retinal function in rats and guinea-pigs reared on diets low in essential fatty acids and supplemented with linoleic or linolenic acids. Ann Nutr Metab. 1986;30(3):166–174. [PubMed]

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