Congenital Hypertrophy Retinal Pigmented Epithelium with Secondary Retinal Pigmented Epithelium Adenoma
We present a case of an asymptomatic patient, with a flat, dark, fundus lesion. Initially the lesion had typical features of CHRPE. After 7 years of stability, a new small, elevated nodule within the flat component of the lesion was observed. A fine needle aspiration biopsy (FNAB) was performed, and a diagnosis of adenoma of the retinal pigment epithelium (RPE) arising from CHRPE was made on the basis of the clinical features. Congenital hypertrophy of the retinal pigment epithelium is a rare benign tumor of the ocular fundus that may vary according to three types. It is frequently asymptomatic and diagnosed during routine ophthalmology exam. CHRPE has three types: Solitary, Bear-tracks and Fish-tail. Fish-tail CHRPE is a phenotypical marker of Familial Adenomatous Polyposis (FAP). FAP-CHRPE may not be observed in all patients with FAP because its manifestation is linked to mutations in specific codons of the Adenomatous Polyposis Coli (APC) gene. RPE Adenoma/Adenocarcinoma are rare lesions that can simulate melanoma. Misdiagnosis of these lesions for melanoma lead to unnecessary enucleation. Rare reports in the literature document neoplasms like melanoma and adenocarcinoma arising de novo from a large CHRPE. FNAB may be of particular benefit to guide management and follow-up.
Presentation Date: 03/20/2025
Issue Date: 04/03/2026
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