Hyperacute Outer Retinal Dysfunction

Importance Pattern recognition of pediatric retinal diseases can streamline the workup and guide the prognosis. Objective To characterize the clinical features, retinal imaging findings, and 1-year prognosis of pediatric patients who experienced sudden, severe bilateral vision loss with diffuse ellipsoid zone (EZ) and external limiting membrane (ELM) disruptions after fever. Design, Setting, and Participants This multicenter case series included 8 pediatric patients (16 eyes) who presented with an unusual set of clinical symptoms, including sudden, severe bilateral vision loss; nyctalopia; and diffuse EZ and ELM disruptions, subsequent to a febrile illness. The patients visited or were referred to a pediatric retina service between November 2022 and May 2023. Main Outcome Measures Changes in visual acuity, visual field, electroretinography (ERG) results, and presence of characteristic retinal imaging signs during follow-up. Results A total of 16 eyes from 8 children (6 boys and 2 girls) were included in this study; the patients’ mean (SD) age was 5.1 (1.2) years (range, 3-7 years; median, 5.0 years). Their sudden bilateral vision loss occurred a mean of 16.1 days after fever onset. Initial symptoms included sudden vision loss, visual field constriction, nyctalopia, and dyschromatopsia. Baseline visual acuity was predominantly below counting fingers. A sudden, diffuse loss of the EZ and ELM was observed in all eyes with gradual recovery beginning around the fourth week. After 1 year, visual acuity showed substantial improvement in most cases, with 7 of 8 patients (88%) achieving 20/40 or better, including 4 patients (50%) achieving 20/25 or better. The macular EZ and ELM appeared intact in 12 eyes (75%) and 14 eyes (88%), respectively, while the extrafoveal regions remained absent of EZ and ELM. ERG revealed extinguished cone and rod responses in 8 patients (100%), and multifocal ERG remained extinguished despite the recovery of visual acuity in all 8 patients (100%). Conclusions and Relevance This case series identifies a potentially underrecognized disease in pediatric patients after fever characterized by sudden vision loss, diffuse EZ and ELM disruption, and distinct retinal imaging features. The term hyperacute outer retinal dysfunction is recommended as descriptive while further investigations are recommended to better understand its pathophysiology and optimal management strategies.