Retinoblastoma in an adult: a diagnostic dilemma

Abstract

We report a case of a man aged 35 years who presented with the chief complaint of painless diminution of vision in the right eye for 4 months. Examination revealed a large inferior retinochoroidal mass along with retinal detachment. An anterior choroidal mass with moderate internal reflectivity was seen on B-scan ocular ultrasonography and MRI and CT scan were indicative of a mitotic aetiology. Fluorodeoxyglucose-positron emission tomography scan ruled out any other systemic foci of involvement. Based on the above findings, a provisional diagnosis of amelanotic choroidal melanoma was made and he was taken up for choroidal aspiration biopsy, wherein the cytopathology report revealed hypercellularity with no identifiable pigments. In view of the above, a diagnosticandtherapeutic enucleation was performed; however, the histopathology report of the enucleated specimen revealed poorly differentiated retinoblastoma. This case highlights that the diagnosis of retinoblastoma should be kept in mind even in adult patients.