Summary
Definition
History and exam
Key diagnostic factors
- age <3 years
- leukocoria (white pupillary reflex)
- strabismus
- positive family history
- pseudo-orbital cellulitis
- 13q syndrome
Other diagnostic factors
- visual disturbances
- ocular pain
- pinealoma
Risk factors
- mutation in RB1 gene
- HPV viral exposure
- advanced paternal age
Diagnostic investigations
1st investigations to order
- funduscopy and examination under anaesthesia
- wide-field fundus photography and spectral domain optical coherence tomography (sdOCT)
- ophthalmic A- and B-scan ultrasound
Investigations to consider
- genetic testing
- MRI head/orbit
- bone marrow aspiration
- lumbar puncture
Treatment algorithm
with vitreous seeding
without vitreous seeding
metastatic disease
recurrence
Contributors
Authors
Timothy G. Murray, MD, MBA, FACS
Founding Director/CEO
Murray Ocular Oncology and Retina
Miami
FL
Disclosures
TGM is president-elect of the American Society for Retina Specialists and has served on advisory panels for the FDA, Alcon Surgical, and Regeneron. 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. 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.
Differentials
- Coats' disease (exudative retinitis or retinal telangiectasis)
- Persistent fetal vasculature (formerly known as persistent hyperplastic primary vitreous)
- Retinopathy of prematurity (ROP)
More DifferentialsGuidelines
- Screening children at risk for retinoblastoma
- Pediatric eye evaluations PPP
More Guidelines
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