Late presentation of a unilateral sporadic retinoblastoma in a 16-year-old girl.

ABSTRACT

BACKGROUND: Retinoblastoma is the commonest intraocular tumour of childhood with the majority of cases being diagnosed before 5 years of age. Late presentation of retinoblastoma is rare. CASE HISTORY A healthy 16-year-old Caucasian girl presented with a 1-day history of blurred vision in the left eye. Examination revealed an inferonasal mass in the left retina with an overlying haemorrhage and vitreous seeding. Imaging studies revealed a 5-mm densely calcified opacity. Other investigations, including cerebral spinal fluid examination, bone marrow aspirate trephine, toxocara serology and serum protein studies, were normal. After considering the differential diagnoses such as toxocariasis and Coat's disease, a diagnosis of late-presenting retinoblastoma was made. The patient subsequently underwent enucleation with a primary orbital implant. The diagnosis was confirmed histopathologically. CONCLUSION: Late presentation of retinoblastoma is uncommon but can be a cause of acute visual impairment in the non-paediatric age group. Retinoblastoma should be considered in the differential diagnosis of a fundal mass in any age group.