Keywords
Pediatrics
Ophthalmology
How to Cite
Copyright © | All rights reserved.
The journal holds the exclusive copyright for the publication of this article under the terms of Brazilian law 9610/98.
Partial reproduction
The use of parts of the texts, figures and questionnaire of the article is free, being mandatory the citation of the authors and journal.
Total reproduction
It is expressly prohibited and must be authorized by the journal.
Abstract
Objective: To analyze the characteristics of retinoblastoma (RB). Bibliographic review: RB is the most common malignant intraocular tumor in children, caused by mutations in the retinoblastoma gene (RB1) located on chromosome 13q14.2. RB affects about 1 in 16,000 live births. Autosomal dominant inheritance is observed in 30 to 40% of cases, while the non-inherited sporadic type is responsible for the remaining 60 to 70%, with the average age of diagnosis being 1 year for hereditary cases and 2 years for sporadic cases. The main symptoms are leukocoria and strabismus. Final considerations: RB is highly curable when diagnosed early. Therefore, its management involves rapid identification and appropriate treatment. Diagnosis is clinical with fundus examination, with biopsy being contraindicated. Therapy depends on the degree of ocular or systemic involvement, and cryotherapy and laser photocoagulation can be used for low-risk tumors or intra-arterial chemotherapy, systemic chemotherapy and enucleation for more advanced and metastatic cases.
References
ALALI A, et al. Retinoblastoma for Pediatric Ophthalmologists. Asia Pac J Ophthalmol (Phila), 2018; 7(3): 160-168.
ANCOMA-LEZAMA D, et al. Modern treatment of retinoblastoma: A 2020 review. Indian J Ophthalmol, 2020; 68(11): 2356-2365.
BARROSO NSF, et al. Complicações do diagnóstico tardio do retinoblastoma: uma revisão integrativa da literatura. Pesquisa, Sociedade e Desenvolvimento, 2022; 11: e06111133291.
BORNFELD N, et al. Retinoblastoma. Ophthalmologe, 2020; 117(4): 389-402.
BYROJU VV, et al. Retinoblastoma: present scenario and future challenges. Cell Commun Signal, 2023; 21(1): 226.
CRUZ-GÁLVEZ CC, et al. Retinoblastoma: Review and new insights. Front Oncol, 2022; 12: 963780.
DIMARAS H e CORSON TW. Retinoblastoma, the visible CNS tumor: A review. J Neurosci Res, 2019; 97(1): 29-44.
FABIAN ID, et al. Global Retinoblastoma Presentation and Analysis by National Income Level. JAMA Oncol, 2020; 6(5): 685-695.
FINGER PT e TOMAR AS. Retinoblastoma outcomes: a global perspective. Lancet Glob Health, 2022; 10(3): 307-308.
JABIR AR, et al. Detection and Diagnosis of Retinoblastoma: Can Mobile Devices Be the Next Step Toward Early Intervention? Cureus, 2022; 14(10): e30074.
KALIKI S, et al. Defining High-risk Retinoblastoma: A Multicenter Global Survey. JAMA Ophthalmol, 2022; 140(1): 30-36.
KAWKHAW R e ROJANAPORN D. Retinoblastoma: Etiology, Modeling, and Treatment. Cancers (Basel), 2020; 12(8): 2304.
LAM M e SUH D. Screening, Diagnosis, and Treatment of Pediatric Ocular Diseases. Children (Basel), 2022; 9(12): 1939.
LIN FY e CHINTAGUMPALA MM. Neonatal Retinoblastoma. Clin Perinatol, 2021; 48(1): 53-70.
MANRIQUE M, et al. Update on the Treatment of Retinoblastoma. Neoreviews, 2021; 22(7): 423-437.
PEELER CE e GONZALEZ E. Retinoblastoma. N Engl J Med, 2022; 386(25): 2412.
ROY SR e KALIKI S. Retinoblastoma: A Major Review. Mymensingh Med J, 2021; 30(3): 881-895.
SILVERA VM, et al. Retinoblastoma: What the Neuroradiologist Needs to Know. AJNR Am J Neuroradiol, 2021; 42(4): 618-626.
SCHWEIGER B, et al. Imaging of retinoblastoma: Current state-of-the-art and future prospects. Radiologie (Heidelb), 2022; 62(12): 1067-1074.
SHIELDS CL, et al. Retinoblastoma: emerging concepts in genetics, global disease burden, chemotherapy outcomes, and psychological impact. Eye (Lond), 2023; 37(5): 815-822.