Refsum's disease: electron microscopy of an iris biopsy.
case_report · Level V
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- Record sourced from PubMed, PMID 1696122.
- Also identified by PMC identifier 1042131.
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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.
Medical subject headings
- Iris
- Refsum Disease