Unilateral Retinoblastoma in a Homozygous Sickle Cell Disease Patient: A Coincidental Occurrence with a Fatal Outcome

Abstract

Retinoblastoma (RB) is the most common ocular malignancy. Presentation of this embryonal tumour in association with homozygous Sickle cell disease (HSCD) is seen for the very first time in a region with the highest prevalence of sickle cell disease and has also never been reported in the literature. The aetiology of RB remains unknown with unilateral disease occurring in about 60% nonhereditary form, and 15% hereditary. Here we present RB in association with HSCD. A 6-year-old HSCD child developed progressive swelling of the left eye for 2-months. Physical examination of the eye showed proptosis and inability to move the eyeball, loss of vision and absent red-light reflex. Histopathology of enucleated eye macroscopically revealed a distorted eyeball. Microscopy revealed a section of a malignant neoplasm composing dense and loose masses of small round cells with hyperchromatic nuclei and scanty cytoplasm, cells were arranged in sheets with few Flexner-wintersteiner rosettes. Presentation of RB in a patient with HSCD may lead to management challenges in our settings with the paucity of voluntary blood donors.