Bilateral familial retinoblastoma diagnosed via optical coherence tomography following a normal funduscopic exam.

Retinoblastoma (RB) is the most common intraocular malignancy in children, and patients with family history of retinoblastoma are at high risk of disease. While intensive screening programs have led to earlier diagnosis and higher rates of globe salvage, visual outcomes have not improved. Handheld optical coherence tomography (HH-OCT) is a non-invasive imaging modality that can be utilized for screening, diagnosis, and monitoring of Familial RB. We present a case of a patient who was found to have bilateral Familial RB with HH-OCT after having a normal fundoscopic exam. This case demonstrates the utility of HH-OCT imaging and suggests that further research is needed to see whether screening guidelines should require OCT imaging during screening.