Retinal cases & brief reports · 2026
OPTICAL COHERENCE TOMOGRAPHY FEATURES OF ATYPICAL CONGENITAL HYPERTROPHY OF RETINAL PIGMENT EPITHELIUM IN A PATIENT WITH FAMILIAL ADENOMATOUS POLYPOSIS.
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Mennecozzi Stefano, Spada Elena, Sacconi Riccardo, Bandello Francesco, Querques Giuseppe
Аннотация
PURPOSE: To describe optical coherence tomography features of atypical congenital hypertrophy of retinal pigment epithelium (RPE) associated with familial adenomatous polyposis.
METHODS: Case report.
RESULTS: A 34-year-old patient diagnosed with familial adenomatous polyposis was referred to our clinic for fundus examination. We characterized the lesions we found using multimodal imaging (infrared, autofluorescence, optical coherence tomography, and widefield and ultra-widefield fundus image). We described three possible stages of progression of the lesions in a single patient, and we found a possible evolutionary stage with a "2 binary reflective sign."
CONCLUSION: Congenital hypertrophy of RPE lesions can show a progression from only RPE hyperreflectivity to complete outer retinal atrophy and even intraretinal RPE migration. We hypothesize that the two binary reflective sign could represent an hemorrhage between RPE and outer retina, which could lead, together with the reduced catabolic activity of pathologic RPE, to overlying retinal atrophy.
METHODS: Case report.
RESULTS: A 34-year-old patient diagnosed with familial adenomatous polyposis was referred to our clinic for fundus examination. We characterized the lesions we found using multimodal imaging (infrared, autofluorescence, optical coherence tomography, and widefield and ultra-widefield fundus image). We described three possible stages of progression of the lesions in a single patient, and we found a possible evolutionary stage with a "2 binary reflective sign."
CONCLUSION: Congenital hypertrophy of RPE lesions can show a progression from only RPE hyperreflectivity to complete outer retinal atrophy and even intraretinal RPE migration. We hypothesize that the two binary reflective sign could represent an hemorrhage between RPE and outer retina, which could lead, together with the reduced catabolic activity of pathologic RPE, to overlying retinal atrophy.