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Adenocarcinoma Arising from Unilateral Retinal Pigment Epithelium Dysgenesis
Brendan K Tao1, Andrew Mihalache2, Filiberto Altomare1
1Department of Ophthalmology & Vision Sciences, University of Toronto, Toronto, ON, Canada.
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.
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