Abstract
PURPOSE: To report the clinical and histopathological findings of atypical intravitreal growth of a retinoblastoma with a multi-branching configuration. OBSERVATIONS: A 7-month-old boy was referred to our hospital due to leukocoria in the right eye. Ophthalmic examinations identified multi-branching vessels surrounded by diaphanous tissue behind the lens in the right eye. Imaging modalities showed microphthalmos, band-shaped calcification, and cystic lesions in that eye. Because it was difficult to rule out congenital anomalies such as persistent fetal vasculature due to the atypical clinical features of retinoblastoma, we performed a biopsy using a limbal approach. An intraoperative rapid pathological examination led to the definitive diagnosis of retinoblastoma. The right eye was enucleated and postoperative adjuvant chemotherapy was administered. Immunohistochemical staining of the enucleated eyeball showed that the tumoral cells and diaphanous tumoral tissue around the vessels were positive for neuron-specific enolase and Ki-67 and partially positive for glial fibrillary acidic protein (GFAP). The vessels of the diaphanous tissues near the tumoral mass were stained by GFAP and those behind the lens were stained faintly. CONCLUSIONS AND IMPORTANCE: We described an atypical retinoblastoma of pseudo-persistent fetal vasculature with a multi-branching configuration, which expanded the clinical spectrum of retinoblastoma. Such a specific growth pattern of the embryonic tumor might occur with a combination of retinal development, retinal vasculature, and hyaloid vascular system.