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on 21 November 2013

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Transcript of Albinism


Matthew Keller, Mark Choe, Santiago Barrero
Honors Biology

Types and Causes of Albinism
Albinism occurs from a couple of genetic defects. Albinism is mainly an autosomal recessive trait, thus it is usually caused by defects from non-sex chromosomes being passed down from the parents who must both have albinism, both be carriers of this recessive allele, or both have one or the other. However unlike most forms of albinism, ocular albinism is passed down as a recessive allele on the X chromosome.
Effects of Albinism
A person with albinism would be identified as having one of the following symptoms:
Absence of color in the hair, skin, or iris of the eye
Lighter than normal skin and hair
Patchy, missing skin color
Albinism can also be associated with the following symptoms:
Crossed eyes
Light sensitivity
Rapid eye movements
Vision problems, or functional blindness
Skin cancer
Sun burns
Bleeding problems
Lung diseases
Bowel diseases
Timeline of the Progression of Albinism
Treatment for Albinism

Treatment for albinism to protect the skin and eyes from the sun:

Reduce sunburn risk by avoiding the sun, using sunscreen with a high sun protection factor, or covering up completely with clothing when exposed to the sun.

Wear sunglasses (UV protected)
There are many types of albinism:
Type 1 albinism causes a lack of the pigment, melanin.
Type 2 albinism causes people with this disease to be slightly colored at birth.
Oculocutaneous albinism causes white or pink hair, skin, or iris color, and causes vision problems.
Ocular albinism causes vision problems and slightly lighter skin.
Hermansky-Pudlak syndrome is a form of albinism which can cause bleeding problems, lung disease, and bowel disease.
Chediak-Higashi syndrome is a form of albinism which causes an incomplete lack of coloring across the skin.
Tuberous sclerosis is a form of albinism which causes small areas of skin to lack coloring.
Waardenburg syndrome is a form of albinism which can cause a lock of hair to grow on the forehead and have no coloring in one or both irises.

Chad , H. (19 Nov 2013). Retrieved from http://www.nlm.nih.gov/medlineplus/ency/article/001479.htm

Charles, R. (19 Nov 2013). Retrieved from http:// www.albinism.org/publications/what_is_albinism.html

Kenneth, R. M., & Joseph, S. L. (2008). Biology. Boston, Massachusetts: Pearson Prentice Hall.

Albinism is passed down from parent to offspring as either an autosomal recessive allele or a recessive allele only found on the X chromosome. A person will have albinism for the rest of his or her life. Though albinism does not truly progress, some forms of albinism can cause other problems and diseases.
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