Differentials
Coats' disease (exudative retinitis or retinal telangiectasis)
SIGNS / SYMPTOMS
Most cases are unilateral.
Mean age at presentation is 6 years.
More common in males.
INVESTIGATIONS
Fundus examination: lesion appears more yellow-coloured (versus chalky white-grey in retinoblastoma); telangiectatic and aneurysmal retinal vessels are characteristic of Coats' disease but uncommon in retinoblastoma.
Spectral domain optical coherence tomography may be helpful in distinguishing Coats' disease from retinoblastoma.[54]
Ophthalmic ultrasound: can be misleading because calcification can also be seen in Coats' disease.
Persistent fetal vasculature (formerly known as persistent hyperplastic primary vitreous)
SIGNS / SYMPTOMS
Associated with a micro-ophthalmic eye (a small, malformed eye).
Dragging of the ciliary processes on examination.
Often associated with a cataract (rare in retinoblastoma).
Congenital (retinoblastoma uncommonly presents at birth).
INVESTIGATIONS
Measurement of axial length using fundus examination and ultrasound shows short axial length in persistent fetal vasculature.
Retinopathy of prematurity (ROP)
SIGNS / SYMPTOMS
Generally occurs in premature children given high-dose oxygen.
Can result in total retinal detachment.
INVESTIGATIONS
Fundus examination: reveals gliotic-appearing retina, which is different from the retinal detachment associated with retinoblastoma.
Ocular toxocariasis
SIGNS / SYMPTOMS
Generally causes vitreoretinal traction and ocular inflammation not seen in retinoblastoma.
INVESTIGATIONS
Fundus examination reveals the characteristic signs.
Astrocytic hamartoma
SIGNS / SYMPTOMS
Grey-white retinal tumour associated with tuberous sclerosis.
Associated with other neurological and skin findings not characteristic of retinoblastoma.
INVESTIGATIONS
Fundus examination reveals the characteristic signs.
Medullo-epithelioma
SIGNS / SYMPTOMS
Generally congenital and unilateral.
Characterised by mass in iris/anterior chamber/ciliary body.
Can cause cataract or lens notch.
INVESTIGATIONS
Fundus examination reveals the characteristic signs.
Ultrasound reveals cystic changes.
Congenital cataract
SIGNS / SYMPTOMS
Presents at birth.
Lens opacification rare in retinoblastoma.
INVESTIGATIONS
Fundus examination reveals lens opacification.
Ultrasound shows increased echogenicity of lens.
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