Paediatric retinal dystrophy associated with ATP1A3 in a child with a background of alternating hemiplegia of childhood

Purpose: Case report describing electroretinography findings in a child with a pathogenic mutation in ATP1A3 Methods: Details of this case were retrospectively reviewed. History was significant for progressive high myopia and alternating hemiplegia of childhood with a confirmed genetic diagnosis. Results: Electroretinography findings demonstrated evidence of both rod and cone dystrophy in a child with a pathogenic mutation in ATP1A3 causing alternating hemiplegia of childhood Conclusions: This report details a previously under-reported associated between mutations in ATP1A3 and retinal dystrophy. We believe that wider dissemination of these findings will help counsel patients and family members about vision loss that may be attributed to retinal rather than optic nerve findings.