Presentation of retinoblastoma as phthisis bulbi

Abstract

Purpose: We sought to determine the incidence of retinoblastoma patients who presented with phthisis bulbi. Methods: The medical records of 272 patients in the King Khaled Eye Specialist Hospital Retinoblastoma Registry were retrospectively studied. Clinical records, radiological investigations and histopathological slides were reviewed. Results: We found that 2.7% of patients had retinoblastoma coincident with phthisis bulbi. Five of 10 patients had bilateral retinoblastoma; in the others it was unilateral. Radiologically, intraocular calcification was present in all except one case. All enucleated phthisical globes had residual viable tumour cells; optic nerve extension was found in 2 patients who had longstanding phthisis bulbi. Conclusion: Phthisis bulbi is an uncommon presenting sign of retinoblastoma which often occurs after an ocular inflammatory episode possibly related to intraocular tumour infarction. In most cases the tumour is not visible because of intraocular disruption. That every enucleated eye in this series harboured well-differentiated tumour cells underlies the seriousness with which phthisis bulbi of unknown origin in children should be investigated for retinoblastoma.