Retinoblastoma

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Последний просмотренный: 14 Apr 2026

Last updated: 28 Jan 2025

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.

Определение

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.

Анамнез и осмотр

Ключевые диагностические факторы

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

Полная информация

Другие диагностические факторы

visual disturbances
ocular pain
pinealoma

Полная информация

Факторы риска

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

Полная информация

Диагностические исследования

Исследования, которые показаны в первую очередь

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

Полная информация

Исследования, проведение которых нужно рассмотреть

genetic testing
MRI head/orbit
bone marrow aspiration
lumbar puncture

Полная информация

Неотложные исследования

liquid biopsy

Алгоритм лечения

Острый

with vitreous seeding

without vitreous seeding

metastatic disease

ПРОДОЛЖЕНИЕ

recurrence

Составители

Авторы

Timothy G. Murray, MD, MBA, FACS

Founding Director/CEO

Murray Ocular Oncology and Retina

Miami

Declarações

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

Declarações

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

Agradecimentos

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.

Declarações

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

Revisores

Susan Schneider, MD

Director

Pharmaceutical Clinical & Scientific Affairs

Bausch & Lomb

Rochester

Declarações

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

Declarações

FM declares that he has no competing interests.

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Principais artigos

Kamihara J, Bourdeaut F, Foulkes WD, et al. Retinoblastoma and neuroblastoma predisposition and surveillance. Clin Cancer Res. 2017 Jul 1;23(13):e98-106.Texto completo Resumo

Global Retinoblastoma Study Group. The Global Retinoblastoma Outcome Study: a prospective, cluster-based analysis of 4064 patients from 149 countries. Lancet Glob Health. 2022 Aug;10(8):e1128-40.Texto completo Resumo

Skalet AH, Gombos DS, Gallie BL, et al. Screening children at risk for retinoblastoma: consensus report from the American Association of Ophthalmic Oncologists and Pathologists. Ophthalmology. 2018 Mar;125(3):453-8.Texto completo Resumo

de Graaf P, Goricke S, Rodjan F, et al. Guidelines for imaging retinoblastoma: imaging principles and MRI standardization. Pediatr Radiol. 2012 Jan;42(1):2-14.Texto completo Resumo

American College of Radiology. ACR appropriateness criteria: orbits, vision and visual loss. 2017 [internet publication].Texto completo Resumo

Hutchinson AK, Morse CL, Hercinovic A, et al. Pediatric eye evaluations preferred practice pattern. Ophthalmology. 2023 Mar;130(3):P222-70.Texto completo Resumo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.

Diagnósticos diferenciais
- Coats disease (exudative retinitis or retinal telangiectasis)
- Persistent fetal vasculature (formerly known as persistent hyperplastic primary vitreous)
- Retinopathy of prematurity (ROP)
Mais Diagnósticos diferenciais
Diretrizes
- Pediatric eye evaluations preferred practice pattern
- Screening children at risk for retinoblastoma
Mais Diretrizes
Conectar-se ou assinar para acessar todo o BMJ Best Practice

O uso deste conteúdo está sujeito ao nosso aviso legal

Retinoblastoma

Резюме

Определение

Анамнез и осмотр

Ключевые диагностические факторы

Другие диагностические факторы

Факторы риска

Диагностические исследования

Исследования, которые показаны в первую очередь

Исследования, проведение которых нужно рассмотреть

Неотложные исследования

Алгоритм лечения

with vitreous seeding

without vitreous seeding

metastatic disease

recurrence

Составители

Авторы

Timothy G. Murray, MD, MBA, FACS

Declarações

Victor M. Villegas, MD

Declarações

Agradecimentos

Declarações

Revisores

Susan Schneider, MD

Declarações

Francis Munier, MD

Declarações

Créditos aos pareceristas

Declarações

Referências

Principais artigos

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.

Diagnósticos diferenciais

Diretrizes

Conectar-se ou assinar para acessar todo o BMJ Best Practice

Conectar-se ou assinar para acessar todo o BMJ Best Practice

Conectar-se para acessar todo o BMJ Best Practice