Retinoblastoma: a most unusual presentation – Case report

Background: Retinoblastoma is the most common intraocular tumour in children, with the average age at diagnosis varying from 12 months in bilateral cases to 23 months for unilateral tumours. Extraocular disease has a far lower survival rate than the intraocular one. In the developed world, more than 90% of patients with retinoblastoma survive, however in the developing world, where retinoblastoma exists primarily as anextraocular disease, relatively few patients survive because of late presentation and paucity of treatment options. 2 Presented here is the case report of a 41/ -month old male Nigerian baby, who presented with a 2-week history of rapidly progressive painful proptosis of the right eye. Examination revealed a firm fungating mass arising from the right orbitwhich had pushed the globe supero-nasally. There was severe right lower lid oedema and marked conjunctival chemosis inferiorly, but the cornea was clear. The patient also had right leukocoria. The left eye was normal. An ultrasound scan showed a huge right ocular tumour, solid in consistency with heterogeneous architecture, which appeared to be growingfrom the superior margin of the globe; the finding was reported to be consistent with retinoblastoma. Due to the rapidly progressive and necrotic nature of the tumour, a lid-sparing modified exenteration was done. Thehistopathology findings were consistent with a diagnosis of undifferentiated retinoblastoma. About two weeks after surgery there was tumour recurrence but this regressed following commencement of chemotherapy by the paediatric oncology unit.The tumour recurred despite aggressive chemotherapy and the patient eventually died 6 months later. Conclusion: Retinoblastoma in Third World countries is still a fatal disease, unlike in developed countries where it has a survival rate of over 90%. Poverty and non availability ofsophisticated diagnostic tools make early detection difficult thus increasing mortality from the disease.Key words: retinoblastoma, congenital, unilateral, rapidlyprogressiv