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Logo of brjopthalBritish Journal of OphthalmologyVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
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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