Highlights & Basics
- 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.
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History & Exam
Key Factors
Other Factors
Diagnostics Tests
Treatment Options
Definition
Epidemiology
Etiology
Pathophysiology
Images
Leukocoria (white pupillary light reflex) in the left eye of a patient with unilateral retinoblastoma
Large retinoblastoma focus in the left eye
Macular retinoblastoma in the right eye
Two large retinoblastoma foci in the left eye; note the associated subretinal seeding
Vitreous seeding associated with retinoblastoma
Citations
Kamihara J, Bourdeaut F, Foulkes WD, et al. Retinoblastoma and neuroblastoma predisposition and surveillance. Clin Cancer Res. 2017 Jul 1;23(13):e98-106.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
American College of Radiology. ACR appropriateness criteria: orbits, vision and visual loss. 2017 [internet publication].[Abstract][Full Text]
Hutchinson AK, Morse CL, Hercinovic A, et al. Pediatric eye evaluations preferred practice pattern. Ophthalmology. 2023 Mar;130(3):P222-70.[Abstract][Full Text]
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37. 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.[Abstract][Full Text]
38. Truong B, Green AL, Friedrich P, et al. Ethnic, racial, and socioeconomic disparities in retinoblastoma. JAMA Pediatr. 2015 Dec;169(12):1096-104.[Abstract]
39. American Academy of Ophthalmology. Review of retinoblastoma. Apr 2016 [internet publication].[Full Text]
40. Houston SK, Berrocal AM, Murray TG. The future of diagnostic imaging in retinoblastoma. J AAPOS. 2011 Apr;15(2):125-6.[Abstract]
41. 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.[Abstract][Full Text]
42. American College of Radiology. ACR appropriateness criteria: orbits, vision and visual loss. 2017 [internet publication].[Abstract][Full Text]
43. Rauschecker AM, Patel CV, Yeom KW, et al. High-resolution MR imaging of the orbit in patients with retinoblastoma. Radiographics. 2012 Sep-Oct;32(5):1307-26.[Abstract][Full Text]
44. Mohney BG, Robertson DM. Ancillary testing for metastasis in patients with newly diagnosed retinoblastoma. Am J Ophthalmol. 1994 Dec 15;118(6):707-11.[Abstract]
45. Stenfelt S, Blixt MKE, All-Ericsson C, et al. Heterogeneity in retinoblastoma: a tale of molecules and models. Clin Transl Med. 2017 Nov 9;6(1):42.[Abstract][Full Text]
46. Rodriguez-Galindo C, Orbach DB, VanderVeen D. Retinoblastoma. Pediatr Clin North Am. 2015 Feb;62(1):201-23.[Abstract]
47. Berry JL, Pike S, Shah R, et al. Aqueous humor liquid biopsy as a companion diagnostic for retinoblastoma: implications for diagnosis, prognosis, and therapeutic options: five years of progress. Am J Ophthalmol. 2024 Jul;263:188-205.[Abstract][Full Text]
48. Ghose N, Kaliki S. Liquid biopsy in retinoblastoma: a review. Semin Ophthalmol. 2022 Oct-Nov;37(7-8):813-9.[Abstract][Full Text]
49. Silva RA, Dubovy SR, Fernandes CE, et al. Retinoblastoma with Coats' response. Ophthalmic Surg Lasers Imaging. 2011 Dec 16;42 Online:e139-43.[Abstract]
50. Hutchinson AK, Morse CL, Hercinovic A, et al. Pediatric eye evaluations preferred practice pattern. Ophthalmology. 2023 Mar;130(3):P222-70.[Abstract][Full Text]
51. Gerrish A, Bowns B, Mashayamombe-Wolfgarten C, et al. Non-invasive prenatal diagnosis of retinoblastoma inheritance by combined targeted sequencing strategies. J Clin Med. 2020 Oct 30;9(11):3517.[Abstract][Full Text]
52. American Academy of Ophthalmology. Retinoblastoma. Feb 2024 [internet publication].[Full Text]
53. Meel R, Kulkarni S, Singh L, et al. Management of intraocular retinoblastoma: ICMR consensus guidelines. Indian J Pediatr. 2024 Apr 13.[Abstract]
54. Royal College of Pathologists. Standards and datasets for reporting cancers. Dataset for histopathological reporting of ocular retinoblastoma. January 2018 [internet publication].[Full Text]
55. Chantada GL, Doz F, Orjuela M, et al. World disparities in risk definition and management of retinoblastoma: a report from the International Retinoblastoma Staging Working Group. Pediatr Blood Cancer. 2008 Mar;50(3):692-4.[Abstract]
56. Howarth C, Meyer D, Hustu HO, et al. Stage-related combined modality treatment of retinoblastoma. Results of a prospective study. Cancer. 1980 Mar 1;45(5):851-8.[Abstract]
57. Abramson DH, Ellsworth RM. The surgical management of retinoblastoma. Ophthalmic Surg. 1980 Sep;11(9):596-8.[Abstract]
58. Schefler AC, Cicciarelli N, Feuer W, et al. Macular retinoblastoma: evaluation of tumor control, local complications, and visual outcomes for eyes treated with chemotherapy and repetitive foveal laser ablation. Ophthalmology. 2007 Jan;114(1):162-9.[Abstract]
59. Gobin YP, Dunkel IJ, Marr BP, et al. Intra-arterial chemotherapy for the management of retinoblastoma: four-year experience. Arch Ophthalmol. 2011 Jun;129(6):732-7.[Abstract]
60. Lumbroso-Le Rouic L, Blanc R, Saint Martin C, et al. Selective ophthalmic artery chemotherapy with melphalan in the management of unilateral retinoblastoma: a prospective study. Ophthalmol Retina. 2021 Aug;5(8):e30-7.[Abstract]
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62. Abramson DH, Daniels AB, Marr BP, et al. Intra-arterial chemotherapy (ophthalmic artery chemosurgery) for group D retinoblastoma. PLoS One. 2016 Jan 12;11(1):e0146582.[Abstract][Full Text]
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64. Wen X, Fan J, Jin M, et al. Intravenous versus super-selected intra-arterial chemotherapy in children with advanced unilateral retinoblastoma: an open-label, multicentre, randomised trial. Lancet Child Adolesc Health. 2023 Sep;7(9):613-20.[Abstract]
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66. Ghassemi F, Shields CL. Intravitreal melphalan for refractory or recurrent vitreous seeding from retinoblastoma. Arch Ophthalmol. 2012 Oct;130(10):1268-71.[Abstract][Full Text]
67. Francis JH, Brodie SE, Marr B, et al. Efficacy and toxicity of intravitreous chemotherapy for retinoblastoma: four-year experience. Ophthalmology. 2017 Apr;124(4):488-95.[Abstract]
68. Francis JH, Iyer S, Gobin YP, et al. Retinoblastoma vitreous seed clouds (class 3): a comparison of treatment with ophthalmic artery chemosurgery with or without intravitreous and periocular chemotherapy. Ophthalmology. 2017 Oct;124(10):1548-55.[Abstract]
69. Munier FL, Gaillard MC, Balmer A, et al. Intravitreal chemotherapy for vitreous disease in retinoblastoma revisited: from prohibition to conditional indications. Br J Ophthalmol. 2012 Aug;96(8):1078-83.[Abstract]
70. Smith SJ, Smith BD. Evaluating the risk of extraocular tumour spread following intravitreal injection therapy for retinoblastoma: a systematic review. Br J Ophthalmol. 2013 Oct;97(10):1231-6.[Abstract]
71. Shields CL, Douglass AM, Beggache M, et al. Intravitreous chemotherapy for active vitreous seeding from retinoblastoma: outcomes after 192 consecutive injections - the 2015 Howard Naquin lecture. Retina. 2016 Jun;36(6):1184-90.[Abstract]
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73. Houston SK, Wykoff CC, Berrocal AM, et al. Lasers for the treatment of intraocular tumors. Lasers Med Sci. 2013 May;28(3):1025-34.[Abstract]
74. Manjandavida FP, Honavar SG, Reddy VA, et al. Management and outcome of retinoblastoma with vitreous seeds. Ophthalmology. 2014 Feb;121(2):517-24.[Abstract]
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78. Mulvihill A, Budning A, Jay V, et al. Ocular motility changes after subtenon carboplatin chemotherapy for retinoblastoma. Arch Ophthalmol. 2003 Aug;121(8):1120-4.[Abstract]
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88. Namouni F, Doz F, Tanguy ML, et al. High-dose chemotherapy with carboplatin, etoposide and cyclophosphamide followed by a haematopoietic stem cell rescue in patients with high-risk retinoblastoma: a SFOP and SFGM study. Eur J Cancer. 1997 Dec;33(14):2368-75.[Abstract]
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91. Matsubara H, Makimoto A, Higa T, et al. A multidisciplinary treatment strategy that includes high-dose chemotherapy for metastatic retinoblastoma without CNS involvement. Bone Marrow Transplant. 2005 Apr;35(8):763-6.[Abstract]
92. Kremens B, Wieland R, Reinhard H, et al. High-dose chemotherapy with autologous stem cell rescue in children with retinoblastoma. Bone Marrow Transplant. 2003 Feb;31(4):281-4.[Abstract]
93. Hertzberg H, Kremens B, Velten I, et al. Recurrent disseminated retinoblastoma in a 7-year-old girl treated successfully by high-dose chemotherapy and CD34-selected autologous peripheral blood stem cell transplantation. Bone Marrow Transplant. 2001 Mar;27(6):653-5.[Abstract]
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95. Shields CL, Shields JA, Cater J, et al. Plaque radiotherapy for retinoblastoma: long-term tumor control and treatment complications in 208 tumors. Ophthalmology. 2001 Nov;108(11):2116-21.[Abstract]
96. Merchant TE, Gould CJ, Wilson MW, et al. Episcleral plaque brachytherapy for retinoblastoma. Pediatr Blood Cancer. 2004 Aug;43(2):134-9.[Abstract]
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