**Abstract**

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.

**Keywords:** retinoblastoma, intraocular tumors, oncology, children, b-scan ultrasonography, leukocoria, evaluation, diagnosis

## **1. Introduction**

Pawius of Amsterdam is the first physician credited with recognizing retinoblastoma in the autopsy of a young child in 1597 [1]. In 1809, a Scottish surgeon from Edinburgh, James Wardrop, published a monograph entitled "*Observations on the fungus haematodes, or soft cancer, in several of the most important organs of the human body"*. His monograph included clinical histories of 15 children diagnosed with an intraocular tumor at the age of 1–6 years [2]. Dr. Wardrop described the tumors as "white in colour and brain-like in substance", and he concluded as well that they were of retinal origin. He even went so far as to recommend enucleation to save the life of the children, in which his peers did not agree with him at the time. The first case in American literature was by Dr. Steven at New York Hospital in 1818 [3]. At the time, retinoblastoma was known at *fungus haematodes* which was initially described by Dr. Hey of Leeds, England [4]. Virchow in 1845 renamed the entity *glioma of the retina* [5]. Hirschberg further described the glioma into *exophytum* and *endophytum* [6]. Flexner described the histologic findings of cellular rosettes in the tumor in 1891 [7]. In 1897, Wintersteiner described the lumen of the rosette [8]. Finally Verhoeff named the tumor *retinoblastoma* which was adopted by the American Ophthalmological Society in 1926, thus arriving at the terminology we use to this day [9].
