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Description

The purpose of this research timeline is to synthesize the natural history of retinoblastoma to understand its societal effects and develop a public health message to raise awareness of the disease. We used literature-based research in order to gain an understanding about the discovery of this disease and investigate its most current state of knowledge. Retinoblastoma is an intraocular cancer that manifests early in childhood. It is typically linked to a somatic or germline insertion, deletion, or single-base substitution mutation on both alleles of RB1, a tumor-suppressor gene. Retinoblastoma was first identified in 1809 by James Wardrop, and since then, research has been focused on improved treatment methods to prevent enucleation and has been steady with focus on the RB1 allele. Retinoblastoma is characterized by many assorted phenotypes that vary in severity based on the size of the chromosomal deletion. The most common symptoms include leukocoria, poor vision tracking, swelling and inflammation, all of which can be treated upon early detection. Methods of treatment include enucleation that completely removes the eye with the tumor, leaving the muscles and orbital contents intact, and it is 95% effective. Chemotherapy is also used in severe cases. The discovery of the Rb1 gene has had significant impacts with the advancement of cancer research. Because of this, mutations in the Rb gene are vastly studied due to the association of Rb in other cancers and its molecular action in the cell cycle. It is often taught in foundational biology courses, as a result.

Publication Date

Spring 2021

Language

English

Keywords

Cancer; Eye; Genetics; Timeline

Disciplines

Genetics | Public Health

File Format

pdf

File Size

3325 KB

Comments

Faculty Mentor: Kathryn Rafferty, Ph.D.

Retinoblastoma: Past, Present, and Future


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