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Refsum's disease: electron microscopy of an iris biopsy.
  1. A D Dick,
  2. J Jagger and
  3. A C McCartney
  1. Department of Ophthalmology, University College Hospital, London.


    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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