Retinoblastoma differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2] Simrat Sarai, M.D. [3]


Retinoblastoma must be differentiated from other diseases that cause leukocoria. leukocoria may occur in several ocular conditions including tumors, vascular disease, inflammatory disorders, and also due to trauma.

Differentiating Retinoblastoma from Other Diseases

Retinoblastoma must be differentiated from other diseases that cause leukocoria. Differential diagnosis of leukocoria in children include:

Congenital malformations
Vascular diseases
Inflammatory diseases
Combined retinal hamartoma
Astrocytic hamartoma (Bourneville’s tuberous sclerosis)
Persistent fetal vasculature (PFV)
Posterior coloboma
Retinal fold
Myelinated nerve fibers
Morning glory syndrome
Retinal dysplasia
Norrie’s disease
Incontinentia pigmenti
Retinopathy of prematurity (ROP)
Coats’ disease
Familial exudative vitreoretinopathy (FEVR)
Ocular toxocariasis
Congenital toxoplasmosis
Congenital cytomegalovirus retinitis
Herpes simplex retinitis
Other types of fetal iridochoroiditis
Intraocular foreign body
Vitreous hemorrhage
Retinal detachment
The above algorithm is adopted from Clinical Ophthalmic Oncology book [1]

Retinoblastoma should be differentiated from the following conditions that cause leukocoria:

Disease/Condition Clinical presentation Demographics/History Diagnosis Other notes
  • Sporadic in 100% of the cases
  • Almost always unilateral
  • More common among boys
  • The median age of diagnosis 5 to 9 years
Persistent fetal vasculature (formerly known as persistent hyperplastic primary vitreous)[5]
Astrocytic hamartoma[1]
Retinopathy of prematurity (ROP)[1]
  • Short axial length of eyes
Ocular toxocariasis [1]
  • Presence of retinal and/or vitreous traction in approximately all of the cases
Familial Exudative Vitreoretinopathy (FEVR)[6]
Norrie’s Disease[1][7]


MRI of the orbit showing Coats disease - Case courtesy of Dr Michael Sargent, From the case
MRI of the orbit showing retinal detachment - Case courtesy of A.Prof Frank Gaillard, From the case
MRI of the orbit showing retinoblastoma - Case courtesy of From the case
CT head showing hyperthyroid-induced orbitopathy - Case courtesy of A.Prof Frank Gaillard, From the case


  1. 1.0 1.1 1.2 1.3 1.4 1.5 Singh, Arun (2015). Clinical ophthalmic oncology : retinoblastoma. Heidelberg: Springer. ISBN 978-3-662-43451-2.
  2. Butros LJ, Abramson DH, Dunkel IJ (March 2002). "Delayed diagnosis of retinoblastoma: analysis of degree, cause, and potential consequences". Pediatrics. 109 (3): E45. PMID 11875173.
  3. Sachdeva R, Schoenfield L, Marcotty A, Singh AD (June 2011). "Retinoblastoma with autoinfarction presenting as orbital cellulitis". J AAPOS. 15 (3): 302–4. doi:10.1016/j.jaapos.2011.02.013. PMID 21680213.
  4. Silva RA, Dubovy SR, Fernandes CE, Hess DJ, Murray TG (December 2011). "Retinoblastoma with Coats' response". Ophthalmic Surg Lasers Imaging. 42 Online: e139–43. doi:10.3928/15428877-20111208-04. PMID 22165951.
  5. 5.0 5.1 Gupta N, Beri S, D'souza P (June 2009). "Cholesterolosis Bulbi of the Anterior Chamber in Coats Disease". J Pediatr Ophthalmol Strabismus. doi:10.3928/01913913-20090616-04. PMID 19645389.
  6. Gerstenblith, Adam (2012). The Wills eye manual : office and emergency room diagnosis and treatment of eye disease. Philadelphia: Wolters Kluwer/Lippincott Williams & Wilkins. ISBN 978-1451109382.
  7. Howard GM, Ellsworth RM (October 1965). "Differential diagnosis of retinoblastoma. A statistical survey of 500 children. I. Relative frequency of the lesions which simulate retinoblastoma". Am. J. Ophthalmol. 60 (4): 610–8. PMID 5897773.