This 8-month-old girl presented with bilateral nystagmus, leukocoria, and inability to focus on objects. Family history was completely negative.
Examination under anesthesia revealed bilateral lobular white retinal masses projecting into each vitreous. B-scan ultrasonography shows intralesional hyperreflectivity suggestive of calcification. She was immediately referred to ocular oncology.
Learning Points:
Retinoblastoma (RB) is the most common primary intraocular tumor of childhood. The RB1 gene, located on chromosome 13 (13q14.2), encodes a tumor suppressor protein. The vast majority of cases have no family history. Bilateral and multifocal RB occurs in 20-35% of patients and is virtually always due to a germinal mutation. These patients are also at risk for secondary tumors, including pinealoblastoma.
Treatment options include systemic, intra-arterial, and intravitreal chemotherapy; focal therapy (laser photocoagulation, cryotherapy, plaque, or external beam radiotherapy); and enucleation. We assume our patient has a new germline mutation given the negative family history.
