medigraphic.com
Revista Médica Sinergia

2020, Number 05

<< Back Next >>

Revista Médica Sinergia 2020; 5 (05)

Presentation of retinoblastoma in pediatric age

Brenes MN, Osejo RMS, Cartín RAC

Language: Spanish
References: 16
Page: 379-379
PDF size: 155.53 Kb.


ABSTRACT

Retinoblastoma is the most common intraocular malignant neoplasm in pediatric age. It is diagnosed between the first and third year of life. It can affect one or both eyes, with the most characteristic clinical sign being leukocoria, followed by strabismus, nystagmus and red eye. Regarding its incidence, retinoblastoma is much more frequent in less industrialized, lower-class countries and in rural areas. It is considered an autosomal dominant disease, where both alleles of the RB1 gene are mutated, causingalterations in the cell cycle. There are two presentations of retinoblastoma, the inherited form which is associated with germline mutations in the retinoblastoma gene, known as RB1, this presentation usually occurs in young children, most cases are bilateral or multifocal. The non-inherited form is characterized by somatic mutations of RB1 in the tumor, they generally have a unilateral and unifocal disease, have a negative family history and unlike the inherited form, it occurs at a later age. The imagingtechniques used to confirm the diagnosis and evaluate the tumor staging include ocular ultrasound, computed tomography and magnetic resonance imaging. The importance of early detection and timely treatment will allow greater survival in the patient.


REFERENCES

  1. Kivela, T. Hadjistilianou, T. Neonatal Retinoblastoma. Asia-Pacific Journal of Oncology Nursing. 2017; Volume 4, Issue 3. https://doi.org/10.4103/apjon.apjon_18_17

  2. Asencio-Lopez, L. Torres-Ojeda, A. Isaac-Otero, G. Leal-Leal,C. Treating retinoblastoma in the first year of life in a national tertiary paedriatic hospital in Mexico. Acta Paediatrica. 2015; 104, pp. e384-e387. https://doi.org/10.1111/apa.13033

  3. Ridaura-Sanz, C. Murata, C. Ysusi-Mendoza, F. Leal-Leal, Carlos. Peso y talla en niños con retinoblastoma. Acta Pediátrica de Mexico. 2015; 36:81-88. https://doi.org/10.18233/APM36No2pp81-88

  4. Dimaras, H. Corson, T. Cobrinik, D. White, A. Zhao,J et al. Retinoblastoma. Nat Rev Dis Primers. 2017.

  5. Kaufman, P. Kim,J. Berry,J. Retinoblastoma: Treatment and outcome. UpToDate. 2018. https://www.uptodate.com/contents/retinoblastoma-treatment-and-outcome

  6. Bosch-Canto,V. Cruz, C. Ordaz-Favila J.C. Injerto dermograso para cavidad anoftalmica en niños enucleados por retinoblastoma. Elsevier. 2018;93(1):3-6. https://doi.org/10.1016/j.oftal.2017.06.012

  7. Kamihara, J. Bordeaut,F. Foulkes,W. Molenaar,J. Mossé,Y et al. Retinoblastoma and Neuroblastoma predisposition and surveillance. American Association for Cancer Research. 2017; 23: e98-e106. https://doi.org/10.1158/1078-0432.CCR-17-0652

  8. Kaufman, P. Kim, J. Berry,J. Retinoblastoma: Clinical presentation, evaluation and diagnosis. UpToDate. 2018. https://www.uptodate.com/contents/retinoblastoma-clinical-presentation-evaluation-and-diagnosis

  9. Skalet, A. Gombos,D. Gallie,B. Kim,J. Shields,C et al. Screening Children at Risk for Retinoblastoma. American Academy of Ophtalmology. 2018; 125:453-458. https://doi.org/10.1016/j.ophtha.2017.09.001

  10. Fabian, I. Onadim, Z. Karaa,E. Duncan, C. Chowdhury,T et al. The management of retinoblastoma. 2017. https://www.ncbi.nlm.nih.gov/pubmed/29321667

  11. Dyer, M. Implications for cáncer,development, evolution, and regenerative medicine. Elsevier. 2016. Vol xx,No.yy. https://www.ncbi.nlm.nih.gov/pubmed/27567287

  12. Benavente, C. Dyer,M. Genetics and Epigenetics of Human Retinoblastoma. The Annual Review of Pathology. 2015. 10:547-62. https://doi.org/1146/annurev-pathol-012414-040259

  13. Parilla-Vallejo, M. Perea-Perez, R. Relimpio-Lopez, I. Montero-de Espinosa, I. Rodriguez-de-la-Rúa, E et al. Retinoblastoma: La importancia de su diagnóstico precoz. Elsevier. 2018;93(9):423-430.https://doi.org/10.1016/j.oftal.2018.04.010

  14. Truong,B. Green,A. Friedrich, P. Ribeiro,K. Rodriguez-Galindo,C. Ethnic, Racial, and Socioeconomic disparities in Retinoblastoma. JAMA Pediatrics. 2015. Volume 169, Number 12. https://doi.org/10.1001/jamapediatrics.2015.2360

  15. Shen, T. Liu,R. Lin,J. Huang,H. Li,X et al. Pars plana vitrectomy and evisceration resulting in death due to misdiagnosis of retinoblastoma in children. Medicine. 2015. Volume 94, Number 32. https://doi.org/10.1097/MD.0000000000001338

  16. Kaufman, P. Kim,J. Berry,J. Approach to the child with leukocoria. UpToDate. 2018. https://www.uptodate.com/contents/approach-to-the-child-with-leukocoria




2020     |     www.medigraphic.com