Long Term Ophthalmic Follow Up in LCHAD Deficiency

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an autosomal recessive disorder of mitochondrial fatty acid beta oxidation, associated with hypoketotic hypoglycemia, hepatic steatosis, rhabdomyolysis, cardiomyopathy, polyneuropathy and retinal changes. We present the course of retinal findings in a case of a 6-year-old girl with LCHAD deficiency diagnosed at birth, and hence early treated and followed. Our patient had annual eye exams from the age of 1 year. Clinical examinations, ocular coherence tomography (OCT) and electroretinogram (ERG) findings during follow up are presented. At the age of 3 years, after systemic deteriorations, nyctalopia appeared with pigmentary retinopathy changes in both eyes. ERG was subnormal while Infra-red reflectance imaging with OCT displayed more advanced stage of the disease. Progressive chorioretinopathy with visual impairment was observed along the follow up on clinical exams, as well as on repeated OCTs and ERGs.