| Keywords [eng] |
Retinoblastoma, RB1 gene, pediatric oncology, genetic mutation, leukocoria, intra-arterial chemotherapy, enucleation, trilateral retinoblastoma. |
| Abstract [eng] |
Retinoblastoma is an uncommon yet highly aggressive pediatric ocular malignancy that predominantly affects those under the age of five. This thesis provides a comprehensive analysis of the disease, covering its genetic basis, clinical presentation, diagnostic methods, and treatment options. Relevant literature was selected through a focused review of scientific sources, based on language and relevance to retinoblastoma. (1) In most instances, retinoblastoma results from mutations in the RB1 tumor suppressor gene, which leads to uncontrolled cell proliferation. (1), (2) In most cases, retinoblastoma is caused by mutations in the RB1 tumor suppressor gene, leading to uncontrolled cell proliferation. A smaller subset involves MYCN amplification which is tied with more rapidly progressing tumors. The condition manifests in heritable and non-heritable forms, with heritable cases often being bilateral and carrying an elevated risk of secondary cancers. (1) Early diagnosis is crucial for successful treatment, with a white pupillary reflex and misalignment of the eyes being frequently observed symptoms. Imaging techniques, including ultrasound and MRI, are essential in confirming the identification and assessing tumor extent. Staging systems such as the International Classification of Retinoblastoma (ICRB) guide treatment decisions. (1) Treatment advancements, such as intra-arterial chemotherapy (IAC) and intravitreal injections, possess significantly improved eye preservation rates. However, survival rates remain uneven worldwide. (1), (2). |
