Diffuse Infiltrating Retinoblastoma

Jhaj, Gurdeep; Damarjian, Tina G.; Kopplin, Laura J.

doi:10.1097/iae.0000000000002344

Cited by 1 publication

(3 citation statements)

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“…DIR is uncommon, does not demonstrate typical signs, manifests late and often poses a diagnostic challenge, with up to 56% cases having a wrong initial working diagnoses at time of referral. [6][7][8] It is characterized by flat retinal infiltration; in late stages, tumour cells may spread diffusely in vitreous, iris, angle and anterior chamber. Majority may be asymptomatic initially, as DIR exhibits a slower growth pattern.…”

Section: Discussionmentioning

confidence: 99%

“…8 Clinical signs include inflammation, congestion, vitreous cells and raised IOP; our case had congestion and raised IOP. 7,8 Several mechanisms regarding tumour antigen presentation, adhesion, heterotopic precursors and variable immune response have been proposed for the special growth pattern seen in DIR, and research is ongoing. 9 Calcification, which is considered a hallmark of retinoblastoma, is conspicuously absent and thus imaging may not be conclusive.…”

Section: Discussionmentioning

confidence: 99%

“…This plaque like lesion grows slowly towards the anterior segment, does not develop calcification till late stage, and manifests with pseudo-inflammatory complications. 6,7 We present a challenging case of DIR and its clinical and histopathologic correlation. This report adheres to the Declaration of Helsinki and written informed consent of the legal guardians was taken for photographs.…”

Section: Introductionmentioning

confidence: 99%

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Diffuse infiltrating retinoblastoma: A diagnostic conundrum

Mehta¹,

Das

Bhattacharjee³

et al. 2021

IJOOO

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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.

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Section: Discussionmentioning

confidence: 99%