Presentation of retinoblastoma in pediatric age

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, causing alterations 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 imaging techniques 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.