Optical coherence tomography features of atypical congenital hypertrophy of retinal pigment epithelium in a patient with familial adenomatous polyposis.

Q3 Medicine Retinal Cases and Brief Reports Pub Date : 2025-02-03 DOI:10.1097/ICB.0000000000001722

Stefano Mennecozzi, Elena Spada, Riccardo Sacconi, Francesco Bandello, Giuseppe Querques

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Abstract

Purpose: To describe optical coherence tomography (OCT) features of atypical congenital hypertrophy of retinal pigment epithelium (CHRPE) associated with familial adenomatous polyposis (FAP).

Methods: Case report.

Results: A 34-year-old patient diagnosed with FAP was referred to our clinic for fundus examination. We characterized the lesions we found using multimodal imaging (infrared, autofluorescence, OCT and widefield and ultra-widefield fundus image). We described 3 possible stages of progression of the lesions in a single patient and we found a possible evolutionary stage with a "2 binary reflective sign".

Conclusions: CHRPE lesions can show a progression from only retinal pigment epithelium (RPE) hyperreflectivity to complete outer retinal atrophy and even intraretinal RPE migration. We hypothesize that the 2 binary reflective sign could represent an hemorrhage between RPE and outer retina which could lead, together with the reduced catabolic activity of pathological RPE, to overlying retinal atrophy.

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