Different echographic aspects of retinoblastoma in two members of a family

Abstract

A 52-year-old woman presented in her right eye a whitish translucent mass, expanding from the retinal surface into the vitreous. Echography showed a hyperreflective lesion with a corresponding posterior shadowing. Fluorescein angiography confirmed the diagnosis of retinoma. Her grandson had been identified before birth as a carrier of the mutation of hereditary retinoblastoma. On his third day of life, the retinal surface was entirely covered with hemorrhages, echography showed a 1.2 mm thick, highly reflective membranous-like lesion in his left eye. A similar mass was detected three weeks later in his right eye. The lesions were successfully photo-coagulated. In the present study the authors report and discuss the echogaphic pictures obtained and the role of ultrasonographic examination in the diagnosis of different forms of retinoblastoma, considering clinical and genetic implications.