Retinoblastoma: The importance of early diagnosis

• Published in: Archivos de la Sociedad Española de Oftalmología (English ed.) 2018-09, Vol.93 (9), p.423-430
• Main Authors: Parrilla-Vallejo, M., Perea-Pérez, R., Relimpio-López, I., Montero-de-Espinosa, I., Rodríguez-de-la-Rúa, E., Terrón-León, J.A., Díaz-Granda, M.J., Coca-Gutiérrez, L., Ponte-Zuñiga, B., Espejo-Arjona, F.
• Format: Article
• Language: English
• Subjects: Diagnóstico precoz; Early diagnosis; Leucocoria; Leukocoria; RB1; Retinoblastoma
• ISSN: 2173-5794; 2173-5794
• DOI: 10.1016/j.oftale.2018.07.005

Retinoblastoma is the most frequent malignant intraocular tumor in childhood, and both its cure and the sequelae arising from it, mainly depend on an early diagnosis. There is currently no consensus on its diagnostic and therapeutic management. A descriptive, retrospective, and non-randomised study was conducted on a series of cases (39 patients – 58 eyes), treated during the period 2006–2013, in the Regional Reference Center for Tumors of the National Health Service Quality Agency. The most frequent presentation sign is leukocoria (71.8%), followed by strabismus (17.9%). All cases of bilateral tumor had a germline mutation of the RB1 gene, and 20% had a family history. Stage E was observed in 55% of the patients, and 90% required chemotherapy treatment. The eye was maintained in 57% of those who had mild stages, compared to 43% who maintained it in advanced stages. This analysis included 58 eyes. There are no previous studies in our community and there are few series so numerous throughout the country. Based on non-standardised treatment, the most appropriate is chosen according to the characteristics of the tumor. The multidisciplinary management, formed by ophthalmology, pediatric oncology, radiotherapy, and radiophysical oncology, is fundamental for the selection of the most appropriate treatment. Chemo-reduction, along with consolidation treatments, offers encouraging results in the control of these tumors, especially in those of less severity. Enucleation continues to be the method of choice in the most advanced staging with vitreous involvement, with the importance of early diagnosis being highlighted. El retinoblastoma es el tumor intraocular maligno más frecuente en la infancia y tanto su curación como las secuelas derivadas del mismo dependen fundamentalmente de un diagnóstico precoz. En la actualidad, no existe consenso en su manejo diagnóstico y terapéutico. Estudio descriptivo, retrospectivo, no aleatorizado, de serie de casos (39 pacientes-58 ojos), tratados durante el período 2006-2013 en nuestro servicio, nombrado centro de Referencia Regional de Tumores por la Agencia de Calidad del SNS. El signo más frecuente de comienzo es la leucocoria (71,8%), seguido de estrabismo (17,9%). Todos los casos de tumoración bilateral presentaban mutación germinal del gen RB1 y un 20% tenían antecedentes familiares. El 55% de los pacientes presentaron estadio E, y el 90% precisó tratamiento quimioterápico. Un 57% de los que presentaban estadios leves, conse