Retinoblastoma differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1],Associate Editor(s)-in-Chief: Simrat Sarai, M.D. [2]

Overview

Retinoblastoma must be differentiated from other diseases that cause leukocoria, such as congenital cataract, persistent fetal vasculature, Coats disease, coloboma of choroid or optic disc, toxocariasis, astrocytic hamartoma, retinopathy of prematurity, vitreous hemorrhage, uveitis, retinal dysplasia, and medulloepithelioma.

Differential diagnosis

Retinoblastoma must be differentiated from other diseases that cause leukocoria. The common causes of leukocoria in children include:

• Congenital cataract
• Persistent fetal vasculature
• Coats disease

Less common causes of leukocoria include:

• Coloboma of choroid or optic disc
• Toxocariasis
• Astrocytic hamartoma
• Retinopathy of prematurity (stage 4, 5)
• Vitreous hemorrhage
• Uveitis
• Retinal dysplasia
• Medulloepithelioma

Differentiating features of some common and less common differential diagnosis are:

Disease/Condition	Differentiating Signs/Symptoms	Differentiating Tests
Congenital Cataract	Presents at birth Lens opacification rare in retinoblastoma	Fundus examination reveals lens opacification Ultrasound shows increased echogenicity of lens
Coats disease (exudative retinitis or retinal telangiectasis)	Most cases are unilateral Mean age at presentation is 6 years More common in males	Fundus examination: lesion appears more yellow-colored (versus chalky white-gray 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 Ophthalmic ultrasound: can be misleading because calcification can also be seen in Coats disease
Persistent fetal vasculature (formerly known as persistent hyperplastic primary vitreous)	Associated with a micro-ophthalmic eye (a small, malformed eye) Often associated with a cataract (rare in retinoblastoma) Congenital (retinoblastoma uncommonly presents at birth) Dragging of the ciliary processes on exam	Measurement of axial length using fundus examination and ultrasound shows short axial length in persistent fetal vasculature
Retinopathy of prematurity (ROP)	Generally occurs in premature children given high-dose oxygen Can result in total retinal detachment	Fundus examination: reveals gliotic-appearing retina, which is different from the retinal detachment associated with retinoblastoma
Ocular toxocariasis	Generally causes vitreoretinal traction and ocular inflammation not seen in retinoblastoma	Fundus examination reveals the characteristic signs