A Rare and Delayed Presentation of Retinoblastoma in an 8-Year-Old Child: A Case Report

Retinoblastoma is the most common primary intraocular malignancy in childhood and is typically diagnosed prior to the age of five. Late presentation beyond this age is uncommon and is often associated with delayed recognition, misdiagnosis, or restricted access to specialized eye centers.

Here, we document a case of an 8-year-old male child who presented with leukocoria, exotropia, and progressive deterioration of vision in his left eye. Initially, he was misdiagnosed with congenital cataract at a rural primary healthcare center, which delayed proper referral and management. Subsequent clinical examination and imaging revealed a significant intraocular mass with calcification, highly indicative of advanced Group D intraocular retinoblastoma. A differential diagnosis was conducted to rule out conditions that may mimic retinoblastoma. The affected eye was enucleated, and histopathology confirmed the diagnosis, demonstrating Homer Wright rosettes without optic nerve or extraocular spread. Because no high-risk features were found, additional therapy was not necessary.

This case report emphasizes the importance of maintaining awareness of retinoblastoma even in older children, as atypical or delayed presentations may occur. It also highlights the significance of timely recognition, successful referral, and comprehensive imaging with histopathological confirmation in guiding management and improving prognosis.