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Pigmentary retinopathy in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
1Department of Ophthalmology, University of Washington, Seattle 98195-6485, USA.
Purpose:
To define the ophthalmologic findings in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, an inborn error of mitochondrial beta-oxidation.
Method:
Case report.
Results:
A 5-year-old girl with long chain 3-hydroxyacyl-CoA dehydrogenase deficiency had a bilateral acquired disturbance of the retinal pigment epithelium consisting of a central macular spot and regularly spaced peripheral spots. Central and peripheral vision and dark adaptation appeared to be mildly compromised. Electroretinography showed abnormalities of the cone system.
Conclusions:
An excess of long chain and very long chain fatty acid intermediates has been postulated as the cause of the retinopathy in long chain 3-hydroxyacyl-CoA dehydrogenase deficiency and the biochemically related peroxisomal disorders. Dietary management may slow or halt progression. Ophthalmoscopic detection of regularly spaced pigment spots could help identify long chain 3-hydroxyacyl-CoA dehydrogenase deficiency in future cases.
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