Phthisis bulbi and buphthalmos as presenting signs of retinoblastoma: a report of two cases and literature review.
OBJECTIVE
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.
Hadjistilianou
T
T
Retinoblastoma Referral Center, Department of Ophthalmologycal Sciences, Azienda Ospedaliera e Universitaria Senese, University of Siena, Siena, Italy. hadjistilian@unisi.it
De Francesco
S
S
Marconcini
S
S
Mastrangelo
D
D
Galluzzi
P
P
Toti
P
P
D002675:Child, Preschool; D005260:Female; D006801:Humans; D006871:Hydrophthalmos / Q000175:diagnosis*; D007223:Infant; D008279:Magnetic Resonance Imaging; D009916:Orbital Diseases / Q000175:diagnosis*; D019572:Retinal Neoplasms / Q000175:diagnosis*; D012175:Retinoblastoma / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed