Abstract

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 and retinal changes. We present the course of retinal findings in a case of a 6-year-old girl with LCHAD deficiency diagnosed at infancy, and hence early treated and followed. Our patient had annualeye 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. In conclusion, retinal dystrophy in children can be related to metabolic disorders, including LCHAD deficiency. The retinal findings may rapidly progress despite dietary treatment, in relation to frequent metabolic decompensations. On early phase of the disease, Infra-red reflectance imaging with OCT may better identify the severity of the chorioretinopathy. Regular follow-up, including OCT, is recommended in LCHAD deficiency patients to monitor the ocular status.

Keywords: Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD); Ocular coherence tomography (OCT); Electroretinogram (ERG); Retinal dystrophy