Oculocutaneous Albinism Alana Porche pd 2/3

Melanin - a polymer derived from the amino acid tyrosine.

This gene mutation takes place in the one of many genes that has the instructions to make the amino acid tyrosine which makes the melanin.

  • responsible for the color in our bodies such as hair, eyes, and skin.
  • the more melanin the body has, the darker the compextion



This particular type of albinism deals with the effect the condition has on the persons eyes, resulting in many vision problems

Different Types of OCA


types differentiation by the colors of hair, eyes, and skin

Type 1

  • white hair
  • extremely pale
  • light colored irises

Type 2 - less severe as type 1

  • skin more of a creamy white
  • light blonde, or even brown hair
  • similar eyes

Type 3- Rufos OCA typically found in people from dark skin origins

  • milder form
  • reddish/brown skin
  • light red hair
  • hazel/brown eyes

Type 4 - extremely similar to type 2


The discovery of albinism happened so long ago that no one truly knows for sure but is currently being credited to Sir Archibald Edward Garrod for his crucial recordings of the trait. Because it is a trait and has been around for so long, there is no "when" to the discovery.


What are the odds?

  • in U.S. about 1/17,000 people have some form of albinism
  • about 1 out of 20,000 in the world
  • types 1 and 2 are the most common

There is no specific group that has a higher or lower chance but the rate for Africans is less than most other populations.



  • pale skin, typically white hair, light eyes
  • lack of melanin causes light sensitive tissue in the retina
  • fast involuntary eye movements
  • light sensativity
  • reduced vision sharpness
  • crossed eyes
  • lazy eye
  • far or nearsighted

Diagnosis,Prognosis, and Cure

Albinism is usually self diagnosable as it is a very well known and and evident trait. Diagnosing which type of OCA can be determined by the color of hair, skin, and eyes or by ethnicity. The lack of melanin, a natural sunscreen, gives effected people a high chance of skin damage or cancer from the suns UV rays. Through simple precautions such as applying sunscreen solves that issue and corrective glasses can be worn so solve vision problems. Overall, if the people who have OCA take care of their vision and skin, they will go on to live lives just like the rest of us.

Also good to know

  • OCA is a recessive trait on the 11th autosomal chromosome
  • researchers have generated data in rats for OCA type 1, providing hope



Works Cited

Brondum-Nielsen, Karen, et al. "Oculocutaneous Albinism." Orphanet Journal of Rare Diseases, 2 Nov. 2007, ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-43. Accessed 1 Feb. 2017.

Mandal, Ananya. "Melanin Human Adaptation." Edited by Sally Robertson. News-Medical.net, News Medical Life Sciences, www.news-medical.net/health/Melanin-Human-Adaptation.aspx. Accessed 4 Feb. 2017.

---. "What Is Melanin?" Edited by Sally Robertson. News-Medical.net, News Medical Life Sciences, 8 Sept. 2004, www.news-medical.net/health/What-is-Melanin.aspx. Accessed 4 Feb. 2017.

"Oculocutaneous Albinism." Genetics Home Reference, U.S. National Library of Medicine, 31 Jan. 2017, ghr.nlm.nih.gov/condition/oculocutaneous-albinism. Accessed 1 Feb. 2017.

"Oculocutaneous Albinism." Rare Diseases, National Organization of Rare Disorders, rarediseases.org/rare-diseases/oculocutaneous-albinism/. Accessed 4 Feb. 2017.

Roberts, Hannah. "Who Discovered Albinism." The Albinism Project, Weebly, thealbanismproject.weebly.com/who-discovered-albinism.html. Accessed 4 Feb. 2017.

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