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This research aims to characterize retinal pigment epithelial hamartomas in patients with familial adenomatous polyposis using multimodal imaging.

February 2, 2026Ophthalmology Retina1 citationsOpen Access

Retinal Pigment Epithelial Hamartomas in Familial Adenomatous Polyposis: New Insights Based on Multimodal Imaging of 233 Lesions

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CKCheng KongThe University of Sydney CGChristopher GoThe University of Sydney SWShuang WuQueen Mary Hospital

Key Points

This research aims to characterize retinal pigment epithelial hamartomas in patients with familial adenomatous polyposis using multimodal imaging.
Identified RPEH-FAP lesions using multimodal imaging techniques.
Analyzed the characteristics of lesions, including autofluorescence and OCT findings.
Compared findings of RPEH-FAP lesions to typical CHRPE lesions.
Averaged 10 RPEH-FAP lesions per eye in the collection.
Noted hypoautofluorescence and outer retinal loss on OCT in RPEH-FAP lesions.
Identified new features such as presence of pigment epithelial detachments (PEDs) in RPEH-FAP.

Abstract

In this series, a mean of about 10 RPEH-FAP lesions were identified in each eye. RPEH-FAP are usually hypoautofluorescent with outer retinal loss on OCT and as such are similar to typical solitary Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE) lesions not associated with FAP. However, key features differentiating RPEH-FAP from typical solitary CHRPE are the higher number of lesions involving both eyes, bilateral involvement, presence of an iso- or hyperautofluorescent depigmented halo or fish tail and the absence of lacunae or cystoid edema. The presence of PEDs is a new finding.

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Retinal Pigment Epithelial Hamartomas in Familial Adenomatous Polyposis: New Insights Based on Multimodal Imaging of 233 Lesions

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Abstract

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