Bilateral multifocal retinoma and unilateral retinocytoma with intronic Retinoblastoma 1 mutation

We report a rare case of bilateral multifocal retinoma and unilateral retinocytoma in a 15-year-old girl, confirmed to harbor an intronic RB1 mutation (c.1960+1G>A). The patient presented with defective vision and squinting of the left eye. Fundus examination revealed a large calcified macular retinocytoma with two smaller non-calcified retinomas and a solitary vitreous seed in the left eye, while the right eye exhibited a single retinoma. A comprehensive imaging strategy utilizing optical coherence tomography, B-scan ultrasound, and MRI aided in the detailed characterization of the lesion. Transpupillary thermotherapy (TTT) was applied to the retinomas owing to concerns about the patient’s likelihood of being lost to follow-up. The lesions have remained stable on follow-up, highlighting the importance of recognizing this rare tumor entity, which often warrants vigilant observation rather than aggressive intervention.