Retinoblastoma: Presentation, Evaluation, and Diagnosis

Retinoblastoma was initially described in a case series by Dr. James Wardrop in 1809. Since then, the evaluation and diagnosis of retinoblastoma has progressed significantly, thus providing a framework for successful therapy with up to 97% survival rate in developed nations. Here we outline the presentation, evaluation, and detailed diagnostic steps of any child presenting with signs and symptoms of retinoblastoma (RB). We detail the questions and pertinent history to obtain, describe in detail the examination under anesthesia, ancillary testing, and recommendations for both anesthesia and neuroimaging. We also cover the differential diagnosis of retinoblastoma and the most common simulating lesions to present to an ophthalmologist. We describe the ways to determine if a patient has retinoblastoma or some simulating lesion, and the characteristics associated with each possibility. Finally, we briefly address genetic counseling and the next steps after diagnosis.