Multi modal imaging of pediatric unilateral macular discoid lesions

To report the clinical findings, multimodal imaging results and electrophysiologic tests of 6 consecutive pediatric patients. All patients were asymptomatic and had a unilateral, foveal or peri-foveal lesion. We intent to better define and characterize this finding.

This retrospective case series was conducted at Schneider Children's Medical Center. Data gathered between 2014 and 2024, from patients with a round or oval hypopigmented unilateral macular lesion seen in fundus exam. These patients subsequently underwent retinal imaging and clinical follow-up. Clinical, imaging and ocular electrophysiologic data were analyzed for the patients.

Six patients were diagnosed with an asymptomatic, flat, round or slightly oval lesion, with well-defined margins that was typically located in fovea or temporal to the fovea. Visual acuity was 20/20 in both eyes of all patients. The lesion's size was ~ 1.5 disc diameter (DD), it was easily noticed as a hyper-reflectant lesion in infra-red reflectance (IR) imaging and hyperautofluorescent in fundus autofluoresence imaging. Optical coherence tomography (OCT) cross section through the lesion showed only minimal irregularity in outer retinal bands +/- pigment epithelium (RPE). Multifocal ERG was normal. During an average follow up of 5.6 years, no change was documented clinically or per imaging studies in lesion characteristics.

This study is the largest and most detailed so far to describe this entity. All patients had excellent visual acuity. No progression was noted in lesion imaging characteristics during an average of 5.6 years follow up. Normal multifocal ERG results were achieved in the two patients who completed the test. These findings suggest a stationary benign course, at least in childhood; thus, we recommend follow up with periodic retinal imaging, and further research to possibly identify this entity in adults as well.