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.