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  • Title: Refsum's disease: electron microscopy of an iris biopsy.
    Author: Dick AD, Jagger J, McCartney AC.
    Journal: Br J Ophthalmol; 1990 Jun; 74(6):370-2. PubMed ID: 1696122.
    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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