PIGMENTARY RETINOPATHY IN LONG-CHAIN 3-HYDROXYACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY

PURPOSE: To define the ophthalmologic findings in long chain 3-hydroxy acyl-coenzyme A dehydrogenase deficiency, an inborn error of mitochond rial beta-oxidation. METHOD: Case report. RESULTS: A 5-year-old girl w ith long chain 3-hydroxyacyl-CoA dehydrogenase deficiency had a bilate ral acquired disturbance of the retinal pigment epithelium consisting of a central macular spot and regularly spaced peripheral spots. Centr al and peripheral vision and dark adaptation appeared to be mildly com promised, Electroretinography showed abnormalities of the cone system. CONCLUSIONS: An excess of long chain and very long chain fatty acid i ntermediates has been postulated as the cause of the retinopathy in lo ng chain 3-hydroxyacyl-CoA dehydrogenase deficiency and the biochemica lly related peroxisomal disorders. Dietary management may slow or halt progression, Ophthalmoscopic detection of regularly spaced pigment sp ots could help identify long chain 3-hydroxyacyl-CoA dehydrogenase def iciency in future cases.