Clinical severity in LCHAD deficiency is heterogeneous; however, higher plasma concentrations of long-chain 3-hydroxyacylcarnitines correlate with worse retinal function and faster progression of pigmentary chorioretinopathy, and retinal involvement is most frequent in individuals homozygous for HADHA c.1528G>C [33,54]. Here, HADHA is linked to long chain 3-hydroxyacyl-CoA dehydrogenase deficiency.