Dr. Julia Oxford
Oculocutaneous Albinism (OCA) is a genetic condition in which individuals are born without pigmentation. OCA is usually caused by an inherited genetic mutation. Patients are not able to produce a normal amount of melanin that is responsible for eye, skin, and hair color. OCA is a congenital disease affecting 1 in 17,000 people. OCA has been mapped to the short arm of the X chromosome, making it an X-linked gene. A 2-nucleotide insertion causes a frameshift in the gene causing a premature stop codon downstream which results in a truncated protein. The two most prevalent types of OCA are tyrosinase negative (OCA1) and tyrosinase positive (OCA2), both of which do not have treatments. Protection of the eyes and skin from sunlight is an important measure. Regular checks for skin cancer are recommended as well as the use of glasses for improved vision. In this poster, we will look at the molecular mechanisms of the disease as well as possible treatments.
Edralin, Shadee K.R.; Edwards, Madison; Small, Dana A.; Williams, Ryan; Tornello, Ian; and Oxford, Julia, "Oculocutaneous Albinism in Embryonic Development" (2020). 2020 Undergraduate Research Showcase. 203.