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Aggressive metastasising adenocarcinoma of the retinal pigment epithelium with trisomy 21

Department of Ophthalmology and Eye Hospital, University Erlangen-Nürnberg, Erlangen, Germany

Correspondence to:
Dr L M Heindl, Department of Ophthalmology and Eye Hospital, University Erlangen-Nürnberg, Schwabachanlage 6, 91054 Erlangen, Germany; ludwig.heindl{at}augen.imed.uni-erlangen.de

This case report describes a 37-year-old man with a blind eye with opaque media. Histopathology revealed an aggressive adenocarcinoma of the retinal pigment epithelium with marked invasion of the choroid, retina, sclera and—not previously reported—the orbital and cranial optic nerve and subarachnoid space. The tumour seeded into the lumbar spinal-cord space. Metastatic foci—not in continuity with the primary process—developed in the parietal lobe and cerebellopontine angle. Adenocarcinoma of the retinal pigment epithelium, which occurs rarely in longstanding blind eyes, may exhibit aggressive behaviour with life-threatening risk of metastatic spread.

Competing interests: None.

Patient consent: Informed patient consent has been obtained for publication of the case details and figures in this paper.

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