Retinoblastoma

Overview 
Theory 
Diagnosis 
Management 
Follow up 
Resources 

Last reviewed: 5 Oct 2024

Last updated: 02 Oct 2024

Retinoblastoma is the most common intraocular malignancy in children, with approximately 250 to 350 new cases per year in the US.

90% of all retinoblastoma cases are diagnosed by 3 years of age.

Disease can be unilateral or bilateral.

Most common presenting sign is leukocoria (white pupillary reflex), which can often be seen in photographs.

In 30% to 40% of cases, the disease is associated with a germline mutation in the RB1 gene, which carries an associated increased risk of secondary nonocular tumors.

10-year survival is 99% in resource-rich countries. Patients in resource-poor countries typically present with extraocular extension or metastatic disease with a dismal prognosis.

Treatment typically involves chemotherapy (systemic or intra-arterial) plus focal therapy with laser or cryotherapy. In advanced cases, enucleation may be required.

Definition

Retinoblastoma is the most common malignant intraocular tumor in children.[1][2] It can be unilateral or bilateral, familial or spontaneous, and in 30% to 40% of cases is accompanied by a germinal mutation in the RB1 gene.[3][4][5] It often causes an exudative retinal detachment with vitreous seeding.

History and exam

Key diagnostic factors

age <3 years
leukocoria (white pupillary reflex)
strabismus
positive family history
orbital pseudocellulitis
13q syndrome

Full details

Other diagnostic factors

visual disturbances
ocular pain
pinealoma

Full details

Risk factors

mutation in RB1 gene
human papillomavirus (HPV) exposure
advanced paternal age

Full details

Diagnostic tests

1st tests to order

funduscopy and examination under anesthesia
wide-field fundus photography and spectral domain optical coherence tomography (sdOCT)
ophthalmic A- and B-scan ultrasound

Full details

Tests to consider

genetic testing
MRI head/orbit
bone marrow aspiration
lumbar puncture

Full details

Emerging tests

liquid biopsy

Treatment algorithm

ACUTE

with vitreous seeding

without vitreous seeding

metastatic disease

ONGOING

recurrence

Contributors

Authors

Timothy G. Murray, MD, MBA, FACS

Founding Director/CEO

Murray Ocular Oncology and Retina

Miami

Disclosures

TGM is an author of a number of references cited in this topic.

Victor M. Villegas, MD

Ocular Oncologist

Associate Professor

Department of Ophthalmology

University of Puerto Rico

Associate Professor

Department of Surgery

Ponce Health Sciences University School of Medicine

Voluntary Faculty

Bascom Palmer Eye Institute

University of Miami

Miami

Disclosures

VMV is an author of a reference cited in this topic.

Acknowledgements

Dr Timothy G. Murray and Dr Victor M. Villegas would like to gratefully acknowledge Dr Amy C. Schefler, a previous contributor to this topic, and Dr Steven Houston, III, MD for his contribution to the topic.

Disclosures

ACS is an author of a number of references cited in this topic. SH declares that he has no competing interests.

Peer reviewers

Susan Schneider, MD

Director

Pharmaceutical Clinical & Scientific Affairs

Bausch & Lomb

Rochester

Disclosures

SS declares that she has no competing interests.

Francis Munier, MD

Professor and Head of Pediatric Ocular Oncology Unit

Jules Gonin Eye Hospital

Lausanne

Switzerland

Disclosures

FM declares that he has no competing interests.

Differentials
- Coats disease (exudative retinitis or retinal telangiectasis)
- Persistent fetal vasculature (formerly known as persistent hyperplastic primary vitreous)
- Retinopathy of prematurity (ROP)
More Differentials
Guidelines
- Pediatric eye evaluations preferred practice pattern
- Screening children at risk for retinoblastoma
More Guidelines
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Retinoblastoma

Summary

Definition

History and exam

Key diagnostic factors

Other diagnostic factors

Risk factors

Diagnostic tests

1st tests to order

Tests to consider

Emerging tests

Treatment algorithm

with vitreous seeding

without vitreous seeding

metastatic disease

recurrence

Contributors

Authors

Timothy G. Murray, MD, MBA, FACS

Disclosures

Victor M. Villegas, MD

Disclosures

Acknowledgements

Disclosures

Peer reviewers

Susan Schneider, MD

Disclosures

Francis Munier, MD

Disclosures

Differentials

Guidelines

Log in or subscribe to access all of BMJ Best Practice

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