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
其他诊断因素
- visual disturbances
- ocular pain
- pinealoma
危险因素
- mutation in RB1 gene
- human papillomavirus (HPV) exposure
- advanced paternal age
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
需考虑的检查
- genetic testing
- MRI head/orbit
- bone marrow aspiration
- lumbar puncture
新兴检查
- liquid biopsy
治疗流程
with vitreous seeding
without vitreous seeding
metastatic disease
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
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.
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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