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 : 2026-03-01 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 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.

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一名家族性腺瘤性息肉病患者视网膜色素上皮非典型先天性肥大的光学相干断层扫描特征。

目的：描述与家族性腺瘤性息肉病（FAP）相关的不典型先天性视网膜色素上皮肥大（CHRPE）的光学相干断层扫描（OCT）特征。方法：病例报告。结果：一名34岁的FAP患者被转介到我诊所进行眼底检查。我们使用多模式成像（红外、自身荧光、OCT、广角和超广角眼底图像）对发现的病变进行了特征描述。我们描述了单个患者病变进展的3个可能阶段，我们发现了一个可能的进化阶段，具有“2二进制反射标志”。结论：CHRPE病变可从仅视网膜色素上皮（RPE）高反射率发展到完全视网膜外萎缩，甚至视网膜内RPE迁移。我们假设2二元反射征象可能代表RPE和外视网膜之间的出血，这可能导致病理性RPE的分解代谢活性降低，从而导致视网膜萎缩。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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