Purpose: To report two cases of bilateral retinoblastoma (RB) with unusual presentations.
Methods: The medical records of 321 patients from the Retinoblastoma Referral Center in Siena were reviewed. A total of 111 patients had bilateral RB, 2 of them presenting with phthisis bulbi and buphthalmos. Both patients underwent bilateral enucleation. Clinical features, imaging studies, and histopathology were reviewed.
Results: These 2 cases represent 0.62% (2/321) in our series. Histopathology did not reveal viable tumor cells in the phthisical eyes; in both buphthalmic eyes the tumor was active, infiltrating the choroid and optic nerve.
Conclusions: Phthisis bulbi and buphthalmos are unusual presenting signs of RB. This very rare combination of these two signs in different eyes of the same patient is probably due to a delay in diagnosis.