Pigmentary retinopathy in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

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.