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Last reviewed: 20 Mar 2025
Last updated: 28 Jan 2025

Summary

Definition

History and exam

Key diagnostic factors

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

Other diagnostic factors

  • visual disturbances
  • ocular pain
  • pinealoma

Risk factors

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

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

Tests to consider

  • genetic testing
  • MRI head/orbit
  • bone marrow aspiration
  • lumbar puncture

Treatment algorithm

Contributors

Authors

Timothy G. Murray, MD, MBA, FACS

Founding Director/CEO

Murray Ocular Oncology and Retina

Miami

FL

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

FL

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

NY

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.

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