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Refsum's disease: electron microscopy of an iris biopsy
A D Dick1, J Jagger, A C McCartney
1Department of Ophthalmology, University College Hospital, London.
The British Journal of Ophthalmology
|June 1, 1990
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.