Abstract
A child with no prior medical history was brought in after her mother noticed a bilateral pupillary “glow.” Initial evaluation revealed bilateral leukocoria and fundus findings consistent with bilateral Group E retinoblastoma. MRI demonstrated large intraocular masses with possible scleral and optic nerve involvement. Genetic testing confirmed an RB1 mutation, with a strong maternal family history of retinoblastoma. The patient was initiated on systemic chemotherapy but transitioned to intra-arterial chemotherapy due to disease progression, receiving alternating cycles of melphalan, carboplatin, and topotecan. Multiple examinations under anesthesia with fundus imaging, ultrasonography, and OCT documented partial tumor regression but also revealed episodes of new subretinal seeding and persistent retinal detachment. Adjunctive focal therapies, including transpupillary thermotherapy, cryotherapy, laser photocoagulation, and intravitreal topotecan injections were employed. During treatment, the patient developed bilateral high-frequency sensorineural hearing loss and transient right-sided facial nerve palsy, both thought to be chemotherapy-related complications. With combined multimodal therapy, the patient achieved regression of active tumors and stabilization of retinal detachments, with ongoing risk of enucleation discussed. The case highlights the complexity of managing advanced bilateral retinoblastoma, the role of intra-arterial and intravitreal chemotherapy in globe salvage, and the importance of multidisciplinary care involving ophthalmology, oncology, audiology, and neurology.
Presentation Date: 09/18/2025
Issue Date: 12/12/2025
