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The purpose of this research timeline is to synthesize the natural history of Oculocutaneous Albinism (OCA), discover gaps in knowledge, as well as understand the genes and mutations that incite the disease. It is through methods of literature-based research that we found the earliest recognition of OCA and investigated it up to its most current state of research. The rate of research remains steady and continuous with the focus varying widely; either by examining more of the genes involved in the disease or by taking more in-depth looks at mutational analyses of genes that are already observed to be linked to the disease. OCA is a group of autosomal recessive disorders characterized by decreased or absent pigmentation in the hair, skin, and eyes. The genotypes and phenotypes of OCA vary in the population and are broken down into a clinical spectrum which consists of OCA1A, being the most severe, in addition to the milder forms which consist of OCA1B, OCA2, OCA3, and OCA4, which show mild pigment accumulation over time. The majority of these forms are caused by mutations in the TYR gene, which is responsible for the production of melanin, as well as the OCA2 gene, which is responsible for the transport of melanin within a melanocyte. The significance of this research timeline is to look at the natural history of OCA in hopes to understand the mechanism of the disease and look at the current research status of the disease.

Publication Date

Spring 2021





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Faculty Mentor: Kathryn Rafferty, Ph.D.

A Timeline of Oculocutaneous Albinism

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