Novel retinal imaging findings in a pediatric patient with de novo ACTA2 R179H pathogenic variant.

Abstract

Purpose: To report clinical and imaging features of a pediatric patient with ACTA2 R179H 50 pathogenic variant using multimodal imaging.

Case report: A pediatric patient with a pathogenic ACTA2 variant presented with multisystemic 52 symptoms and prominently tortuous retinal vessels as seen on fundus photography, fluorescein 53 angiography, and optical coherence tomography angiography.

Conclusion: Non-invasive retinal imaging, including OCTA, may serve as a biomarker of 55 disease severity in pediatric patients. This approach allows for close monitoring of any vascular 56 changes over time.