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

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.

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Publication Details

Journal
European Journal of Ophthalmology
Published
2025-12-23
DOI
https://doi.org/10.1177/11206721251409299
Primary Topic
Genetic and rare skin diseases.
Type
article
Field-Weighted Citation Impact
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article

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

Stela Vujosevic, A. Cernuschi, Paolo Nucci
European Journal of Ophthalmology
Genetic and rare skin diseases.
article

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

Stela Vujosevic, A. Cernuschi, Paolo Nucci
article en

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.

European Journal of Ophthalmology
University of Milan (IT), MultiMedica (IT)
Openalex Percentile: Top 25%
Genetic and rare skin diseases.
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