Adenocarcinoma Arising from Unilateral Retinal Pigment Epithelium Dysgenesis

Purpose: To describe the clinical evolution of adenocarcinoma arising from unilateral retinal pigment epithelium (RPE) dysgenesis. Methods: A single case was reviewed. Results: A young patient with no relevant family history was referred for evaluation of a fundus lesion of the left eye that had progressed after 5 years of stability. Examination and multimodal imaging revealed a smooth, dome-shaped, amelanotic mass in the posterior pole with overlying vascular distortion and internal calcification. Due to the poor visual prognosis, diagnostic enucleation was performed. Histopathologic analysis revealed a well-differentiated epithelial tumor arising from the RPE. Immunohistochemistry was positive for vimentin and neuron-specific enolase and weakly positive for HMB-45 and MART-1, while electron microscopy demonstrated intercellular basal lamina and desmosome-like junctions, confirming RPE differentiation. Conclusions: This case illustrates confirmed adenocarcinoma arising from unilateral RPE dysgenesis and supports the role of surveillance for some RPE lesions in which malignant transformation may occur as a rare event.