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Retinoblastoma

Last reviewed: 11 Jun 2025
Last updated: 28 Jan 2025

Summary

Definition

病史和体格检查

关键诊断因素

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

其他诊断因素

  • visual disturbances
  • ocular pain
  • pinealoma
完整详情

危险因素

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

诊断性检查

首要检查

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

需考虑的检查

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

新兴检查

  • liquid biopsy

治疗流程

急症处理

with vitreous seeding

without vitreous seeding

metastatic disease

持续性治疗

recurrence

撰稿人

作者

Timothy G. Murray, MD, MBA, FACS

Founding Director/CEO

Murray Ocular Oncology and Retina

Miami

FL

利益声明

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

利益声明

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

鸣谢

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.

利益声明

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

同行评议者

Susan Schneider, MD

Director

Pharmaceutical Clinical & Scientific Affairs

Bausch & Lomb

Rochester

NY

利益声明

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

利益声明

FM declares that he has no competing interests.

参考文献

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

关键文献

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

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.全文  摘要

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.全文  摘要

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.全文  摘要

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

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

参考文献

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
  • Retinoblastoma images
  • 鉴别诊断

    • Coats disease (exudative retinitis or retinal telangiectasis)
    • Persistent fetal vasculature (formerly known as persistent hyperplastic primary vitreous)
    • Retinopathy of prematurity (ROP)
    更多 鉴别诊断
  • 指南

    • Pediatric eye evaluations preferred practice pattern​
    • Screening children at risk for retinoblastoma
    更多 指南
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