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.
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- Fardeau M., Engel W. K. Ultrastructural study of a peripheral nerve biopsy in Refsum's disease. J Neuropathol Exp Neurol. 1969 Apr;28(2):278–294. [PubMed] [Google Scholar]
- 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] [Google Scholar]
- Leat W. M., Curtis R., Millichamp N. J., Cox R. W. 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. doi: 10.1159/000177190. [DOI] [PubMed] [Google Scholar]
- Levy I. S. Refsum's syndrome. Trans Ophthalmol Soc U K. 1970;90:181–186. [PubMed] [Google Scholar]
- McCartney A. C., Bull T. B., Spalton D. J. Fuchs' heterochromic cyclitis: an electron microscopy study. Trans Ophthalmol Soc U K. 1986;105(Pt 3):324–329. [PubMed] [Google Scholar]
- Toussaint D., Danis P. An ocular pathologic study of Refsum's syndrome. Am J Ophthalmol. 1971 Aug;72(2):342–347. doi: 10.1016/0002-9394(71)91303-1. [DOI] [PubMed] [Google Scholar]
- Zinn K. M., Mockel-Pohl S., Villanueva V., Furman M. The fine structure of iris melanosomes in man. Am J Ophthalmol. 1973 Nov;76(5):721–729. doi: 10.1016/0002-9394(73)90568-0. [DOI] [PubMed] [Google Scholar]