Oculocutaneous Albinism By: Kyler Byerly

What is the gene that the mutation occurs in to cause this disease? - TYR, OCA2, TYRP1

What protein is produced by the genes? - Melanin

How and when was the disease first discovered? - 1908. A British scientist came to the conclusion that the disease was probably due to failure of an intracellular enzyme.

Worldwide incidence rate: 1 out of every 17,000 people

Are any specific populations of people affected more than others? - Affects people from all races

What are the symptoms? - Crossed eyes, sensitivity to light, rapid eye movements, and impaired vision or blindness

How is the disease diagnosed? - A visual diagnosis based on the appearance of your eyes, skin, or hair

How is the disease treated? - Prescription glasses or sunglasses, protective clothing, or surgery to correct abnormal eye movements

What is the prognosis for a patient diagnosed with the disease? - Can last for years or be lifelong

What is the genetic pattern of inheritance (autosomal or sex-linked, dominant or recessive)? - Recessive pattern

What current research is being conducted on the disease or its treatments? - Why a lack of melanin is occurring


Genetics Home Reference. U.S. National Library of Medicine, 31 Jan. 2017 ghr.nlm.nih.gov/condition/oculocutaneous-albinism. Accessed 5 Feb. 2017.

National Organization for Rare Disorders. 2016, rarediseases.org/rare-diseases/oculocutaneous-albinism/. Accessed 5 Feb. 2017.

Brown University. 16 Dec. 2016, news.brown.edu/articles/2014/12/albinism. Accessed 5 Feb. 2017.


Created with images by aditza121 - "Eye" • ArmyAmber - "boy poor afraid" • Imahinasyon Photography - "Baby Carl"

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