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.