A Review of Mutations in the RB1 Gene That Affect the Development of Retinoblastoma

Presenter: Sanjana Shastri

Research Category: Health Sciences
College: College of Science
Major(s): Behavioral Neuroscience, Philosophy
Graduation Date: 2024
Additional Authors: Victoria Catala

Retinoblastomas are an aggressive type of childhood cancer that occur within the retina of the eye, preventing this tissue from detecting light and transmitting it into electrical signals for visual recognition within the brain. Retinoblastomas occur due to mutations within the tumor suppression RB1 gene and can be inherited, which accounts for about 40% of all cases worldwide, or non-inherited (occurring randomly). Retinoblastomas affect either one eye or both eyes. Common clinical presentations of this cancer include leukocoria (white reflections of the pupils), strabismus (crossed eyes), and nystagmus, (involuntary eye movement). However, even with these seemingly defining factors, pre-symptomatic retinoblastomas can be extremely difficult to diagnose due to the complex and unique types and combinations of mutations and clinical presentations. This can be extremely detrimental to patients because delayed retinoblastoma diagnosis can lead to decreased organ and patient survival rates. To solve this problem, we have analyzed and synthesized articles describing the various mutations in the RB1 gene as they relate to retinoblastomas, within both national and worldwide populations. We have created a comprehensive data table showcasing the various genotypes of mutations within the RB1 gene as well as their clinical presentations and commonalities both overall and within certain populations. This will permit an easier and more definitive diagnosis of retinoblastomas based on mutations within the RB1 gene, which will lead to an increase in early diagnoses and increase the survival rate in children and young adults with retinoblastoma.