Multimodal Imaging of Congenital Retinal Pigment Epithelial Hypertrophy: A Case Report

Introduction: Congenital hypertrophy of the retinal pigment epithelium is a benign, asymptomatic congenital hamartoma characterized by flat, well-defined pigmented lesions on the fundus. It has three clinical forms: solitary, multiple and atypical. Objectives and Methods: We report the case of a 58-year-old female patient whose fundus examination revealed a juxtapapillary pigmented lesion. Fluorescein angiography showed the lesion to be hypofluorescent. Its tomographic appearance is distinctive, with thinning of the neurosensory retina opposite the lesion, and thickening of the retinal pigment epithelium in pigmented areas and thinning in lacunar areas. After a 12-month follow-up, the lesion remained stable. Discussion: Congenital hypertrophy of the retinal pigment epithelium is a benign ocular condition characterized by single or multiple pigmented retinal lesions. Histologically, it consists of a single-cell layer of hypertrophied retinal pigment epithelium cells, densely filled with large, round macromelanosomes. Although this is a benign, asymptomatic condition that is usually diagnosed incidentally, further evaluation may be necessary to rule out associated syndromes and differential diagnoses, particularly in the case of multiple or atypical lesions. Patient education regarding the potential risk of growth, choroidal neovascularization, or exceptionally malignant transformation to adenocarcinoma is necessary. Conclusion: Congenital hypertrophy of the retinal pigment epithelium is a rare and benign condition, generally requiring no treatment, but regular long-term follow-up is mandatory.