Multiple Misdiagnoses of Retinoblastoma in an 8-Year-Old Boy: A Case Report

Abstract

Retinoblastoma is the most common intraocular malignancy in children, typically diagnosed before the age of five. Delayed or incorrect diagnosis can lead to extraocular metastasis or intracranial extension. In older children, the presentation may be atypical and mimic conditions such as endophthalmitis, Coats disease, or uveitis, which can make the diagnosis challenging. Here we present a case of unilateral retinoblastoma that was misdiagnosed multiple times, ultimately resulting in intracranial extension and patient death. An 8-year-old boy with a 7-month history of progressive unilateral proptosis and vision loss was referred for ophthalmologic consultation. He had been misdiagnosed three separate times with uveitis, Coats disease, and optic pathway glioma. Before the correct diagnosis was made, he underwent ventriculoperitoneal (VP) shunt
placement for obstructive hydrocephalus. On examination, chemosis, anterior staphyloma, and xanthocoria were noted. The anterior chamber was completely filled with an intraocular mass. Intraocular pressure was 35 mmHg. A previously performed computed tomography (CT) scan showed an intraocular mass with calcification. B-scan ultrasonography revealed a slightly hyperechoic infiltrative mass with fine calcifications. Magnetic resonance imaging (MRI) demonstrated intracranial extension. Cerebrospinal fluid (CSF) cytology was negative for tumor cells. Systemic chemotherapy was initiated immediately, but the patient passed away 3 months later. Successful management of retinoblastoma requires a high index of suspicion to enable early diagnosis. Manifestation after 5 years of age may appear atypical, and mimickers such as endophthalmitis, Coats disease, or uveitis can easily mislead the physician, result in unnecessary interventions, and delay early treatment.