Rethinking the definition of “combined retinal hamartoma”: A call for taxonomical clarity

Abstract

Combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) has long been regarded as a congenital, full-thickness malformation involving all retinal layers and the RPE. However, advances in multimodal imaging have revealed a subset of non-pigmented, inner-retinal lesions with features distinct from the CHRRPE phenotype described classically. These findings raise questions about whether such lesions share a common pathogenesis or represent earlier or separate entities. The term “combined hamartoma,” implying a static congenital malformation, may therefore not fully capture their dynamic behavior and their variable retinal involvement. This editorial calls for taxonomical clarity to better align terminology with current imaging evidence and guide future research and treatments.