Malignant Transformation of Congenital Hypertrophy of the Retinal Pigment Epithelium

Purpose: To report a clinicopathologic correlation of an adenocarcinoma that arose from solitary congenital hypertrophy of the retinal pigment epithelium (CHRPE). Design: Case report with clinicopathologic correlation. Methods: A 56-year-old black woman was referred for an asymptomatic fundus lesion in her left eye. It had features typical of CHRPE, but there was a small elevated nodule within the flat component, and the diagnosis was adenoma of the retinal pigment epithelium (RPE) arising from CHRPE. The lesion was observed periodically. The nodule slowly enlarged, and increasing amounts of lipoproteinaceous exudation accumulated in the adjacent retina. Thirteen years after the initial diagnosis, the patient returned with severe visual loss and no view of the fundus resulting from cataract and posterior synechia. Ultrasonography revealed a total retinal detachment and a pedunculated tumor measuring 7.5 mm in thickness. The eye was enucleated and studied histopathologically. Main Outcome Measures: Clinical evaluation and correlation of clinical findings with histopathologic results of the enucleated eye. Results: Histopathologically, the mass was composed of a proliferation of atypical RPE cells with a marked infiltration of benign plasma cells. Typical features of CHRPE were present at the base of the tumor. The final diagnosis was adenocarcinoma arising from CHRPE. Conclusions: Congenital hypertrophy of the retinal pigment epithelium, once considered to be a benign and stationary lesion, may spawn a malignant neoplasm. Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article. Ophthalmology 2009;116:2213-2216 (C) 2009 by the American Academy of Ophthalmology.