Phthisis bulbi and buphthalmos as presenting signs of retinoblastoma: a report of two cases and literature review

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.