Retinoblastoma in a 48-year-old woman.

Abstract

The purpose of this study was to describe an unusual presentation of retinoblastoma in an adult. Retrospective case report. A 48-year-old woman with floaters was found to have an amelanotic intraocular mass with localized vitreous seeds in the superior fundus. Metastatic workup was negative. Cytologic examination of the vitrectomy specimen showed a malignant neoplasm with neuroendocrine differentiation, suspicious for carcinoid tumor. The patient later was found to have a lung lesion presumed to be a carcinoid tumor. She was treated with external beam radiation to the eye, but 1 year later, a new retinal tumor was discovered inferiorly requiring plaque radiotherapy. Soon thereafter, she developed massive intraocular recurrence. The eye was enucleated. Histopathology revealed small round blue cells with round hyperchromatic nuclei. Rosettes were also present within the tumor consistent with retinoblastoma. Late-onset retinoblastoma can occur in adults, and the diagnosis can be challenging.