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 papillary 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.
Quick Reference
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
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]
Kamihara J, Bourdeaut F, Foulkes WD, et al. Retinoblastoma and neuroblastoma predisposition and surveillance. Clin Cancer Res. 2017 Jul 1;23(13):e98-e106.[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]
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]
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23. Houston SK, Berrocal AM, Murray TG. The future of diagnostic imaging in retinoblastoma. J AAPOS. 2011 Apr;15(2):125-6.[Abstract]
24. 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]
25. American College of Radiology. ACR appropriateness criteria: orbits, vision and visual loss. 2017 [internet publication].[Abstract][Full Text]
26. 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]
27. 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]
28. Kamihara J, Bourdeaut F, Foulkes WD, et al. Retinoblastoma and neuroblastoma predisposition and surveillance. Clin Cancer Res. 2017 Jul 1;23(13):e98-e106.[Abstract][Full Text]
29. Silva RA, Dubovy SR, Fernandes CE, et al. Retinoblastoma with Coats' response. Ophthalmic Surg Lasers Imaging. 2011 Dec 16;42 Online:e139-43.[Abstract]
30. Hutchinson AK, Morse CL, Hercinovic A, et al. Pediatric eye evaluations preferred practice pattern. Ophthalmology. 2023 Mar;130(3):P222-70.[Abstract][Full Text]
31. 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]
32. Royal College of Pathologists. Standards and datasets for reporting cancers. Dataset for histopathological reporting of ocular retinoblastoma. January 2018 [internet publication].[Full Text]
33. 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]
34. 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]
35. Chen Q, Zhang B, Dong Y, et al. Comparison between intravenous chemotherapy and intra-arterial chemotherapy for retinoblastoma: a meta-analysis. BMC Cancer. 2018 Apr 27;18(1):486.[Abstract][Full Text]
36. Ministry of Health and Family Welfare India. Retinoblastoma: standard treatment guidelines. 2016 [internet publication].[Full Text]
37. 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]
38. Scott IU, Murray TG, Feuer WJ, et al. External beam radiotherapy in retinoblastoma: tumor control and comparison of 2 techniques. Arch Ophthalmol. 1999 Jun;117(6):766-70.[Abstract]
39. Abramson DH, Beaverson KL, Chang ST, et al. Outcome following initial external beam radiotherapy in patients with Reese-Ellsworth group Vb retinoblastoma. Arch Ophthalmol. 2004 Sep;122(9):1316-23.[Abstract]
40. Leng T, Cebulla CM, Schefler AC, et al. Focal periocular carboplatin chemotherapy avoids systemic chemotherapy for unilateral, progressive retinoblastoma. Retina. 2010;30(suppl 4):S66-S68.[Abstract]
41. 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]
42. Schmack I, Hubbard GB, Kang SJ, et al. Ischemic necrosis and atrophy of the optic nerve after periocular carboplatin injection for retinoblastoma. Am J Ophthalmol. 2006 Aug;142(2):310-5.[Abstract]
43. Uusitalo MS, Van Quill KR, Scott IU, et al. Evaluation of chemoprophylaxis in patients with unilateral retinoblastoma with high-risk features on histopathologic examination. Arch Ophthalmol. 2001 Jan;119(1):41-8.[Abstract]
44. Chantada GL, Dunkel IJ, de Dávila MT, et al. Retinoblastoma patients with high risk ocular pathological features: who needs adjuvant therapy? Br J Ophthalmol. 2004 Aug;88(8):1069-73.[Abstract][Full Text]
45. Zelter M, Damel A, Gonzalez G, et al. A prospective study on the treatment of retinoblastoma in 72 patients. Cancer. 1991 Oct 15;68(8):1685-90.[Abstract]
46. Kiratli H, Bilgiç S, Ozerdem U. Management of massive orbital involvement of intraocular retinoblastoma. Ophthalmology. 1998 Feb;105(2):322-6.[Abstract]
47. Goble RR, McKenzie J, Kingston JE, et al. Orbital recurrence of retinoblastoma successfully treated by combined therapy. Br J Ophthalmol. 1990 Feb;74(2):97-8.[Abstract][Full Text]
48. Doz F, Khelfaoui F, Mosseri V, et al. The role of chemotherapy in orbital involvement of retinoblastoma: the experience of a single institution with 33 patients. Cancer. 1994 Jul 15;74(2):722-32.[Abstract]
49. Sandri A, Besenzon L, Acquaviva A, et al. "Eight drugs in one day" chemotherapy in a nonfamilial bilateral retinoblastoma with recurrent cerebrospinal fluid metastases. Pediatr Hematol Oncol. 1998 Nov-Dec;15(6):557-61.[Abstract]
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51. 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]
52. White L. Chemotherapy for retinoblastoma. Med Pediatr Oncol. 1995 May;24(5):341-2.[Abstract]
53. Schouten-Van Meeteren AY, Moll AC, Imhof SM, et al. Overview: chemotherapy for retinoblastoma: an expanding area of clinical research. Med Pediatr Oncol. 2002 Jun;38(6):428-38.[Abstract]
54. 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]
55. 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]
56. 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]
57. Dunkel IJ, Aledo A, Kernan NA, et al. Successful treatment of metastatic retinoblastoma. Cancer. 2000 Nov 15;89(10):2117-21.[Abstract]
58. 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]
59. Merchant TE, Gould CJ, Wilson MW, et al. Episcleral plaque brachytherapy for retinoblastoma. Pediatr Blood Cancer. 2004 Aug;43(2):134-9.[Abstract]
60. 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]
61. 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]
62. 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]
63. 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]
64. 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]
65. Francis JH, Brodie SE, Marr B, et al. Efficacy and toxicity of intravitreous chemotherapy for retinoblastoma: four-year experience. Ophthalmology. 2017 Apr;124(4):488-495.[Abstract]
66. 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 May 22 [Epub ahead of print].[Abstract]
67. Canadian Ophthalmological Society (Canadian Retinoblastoma Society). National retinoblastoma strategy: Canadian guidelines for care (Stratégie thérapeutique du rétinoblastome guide clinique canadien). Can J Ophthalmol. 2009;44(Suppl 2):S1-S88.[Abstract][Full Text]
68. Silva RA, Dubovy SR, Hess D, et al. Hemorrhage as a sign of treatment failure after intra-arterial chemotherapy in retinoblastoma. J AAPOS. 2015 Jun;19(3):268-70.[Abstract]
69. Rivera GK, Pui CH, Santana VM, et al. Epipodophyllotoxins in the treatment of childhood cancer. Cancer Chemother Pharmacol. 1994;34 Suppl:S89-S95.[Abstract]
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