Diffuse infiltrating retinoblastoma: A diagnostic conundrum

Abstract

Diffuse infiltrating retinoblastoma (DIR) is characterized by absence of intraocular mass, lack of calcification. It may mimic inflammatory uveitis or exudative retinopathy. An eight-years-old boy presented with progressive loss of vision in left eye. Clinical evaluation revealed neovascular glaucoma with a yellow–gray fundal glow, exudative retinal detachment, subretinal exudation and telangiectatic vessels. The presentation was consistent with exudative retinopathy (Coat’s disease) but for the presence of a family history of retinoblastoma in the younger sibling. Despite the absence of an intraocular mass or calcification on multimodal imaging, the enucleation was done on the basis of clinical suspicion of retinoblastoma. Histopathology confirmed a diagnosis of DIR.: DIR can pose a diagnostic challenge due to its non-characteristic clinical and imaging features and atypical presentation. A high index of suspicion along with a positive family history was key to diagnosis in our case; histopathology was confirmatory.