Case Report: Pediatric Erdheim-Chester disease with bilateral chorioretinal and central nervous system infiltration

Erdheim-Chester disease (ECD) is a rare histiocytic disorder characterized by the infiltration of tissues with foamy, xanthomatous CD68/CD163-positive, CD1a-negative histiocytosis. Pediatric ECD with chorioretinal involvement is exceedingly rare. Clinical manifestations and ophthalmic imaging findings are atypical, leading to misdiagnosis or missed diagnosis. From an ophthalmological perspective, we share an extremely rare case of pediatric ECD with chorioretinal and central nervous system infiltration, highlighting the diagnostic challenges and expanding the phenotypic spectrum of intraocular manifestations.