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.
Department of Ophthalmology, University College Hospital, London.
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Dick
J
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Jagger
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McCartney
D000328:Adult; D001706:Biopsy; D006801:Humans; D007498:Iris / Q000378:metabolism / Q000648:ultrastructure*; D008055:Lipids / Q000032:analysis; D008297:Male; D008854:Microscopy, Electron; D012035:Refsum Disease / Q000378:metabolism / Q000473:pathology*
D008055:Lipids