Albinism (Hypo pigmentation)

By: Olivia Heel

and Brandon Kenney

Medical

Albinism is the lack of pigmentation in the eyes, skin, and hair.

It is a recessive trait that is typically inherited from BOTH parents.

Albinism is classified as a “rare” disorder. Less than 200,000 Americans have it and only 1/17,000 people in the world have it.

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Both animals and humans can carry the disease.

Possible genotypes: Aa x Aa; aa x aa; Aa x aa.

Carriers have a %50 chance of passing the gene on. Only 1 out of 70 is a carrier. A a

AA Aa

Aa aa

A

a

If both parents are heterozygous, there is a %25 chance their child will have albinism.

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Albinism causes poor vision and to sunburn easily. People with albinism have a normal life span.

However, they are more at risk for skin cancer which can cause earlier deaths.

Recent research has shown that albinism can lead to Hermansky-Pudlak Syndrome which causes bleeding and bruising problems. Also, new surgeries help with eye and vision problems.

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Physical Traits: – Little or no pigmentation in hair, eyes, skin. – Patchy skin color. – Crossed eyes/lazy eyes/rapid eye movements. – Most animals have red or pinkish eyes and

humans normally have light blue eyes. (The red/pink color comes from lack of pigmentation so the color of the blood vessels in the iris shows through.)

Medical- (You know the drill)

Diagnosis:– Observation (abnormally light skin/hair)– Hairbulb Pigmentation Test: tests if there is pigment in the

hair. A positive test will come out dark, a negative test yields light hair and thus the lack of melanin creating pigment.

– Tyrosinase test: tests the rate at which hair converts tyrosine into the chemical DOPA, which is then made into pigment.

– Genetic testing– Ophthalmologist can test for eye pigmentation.– Blood tests can help identify carriers of albinism.

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Treatment: – There is no cure for albinism– Surgeries can help with rapid eye

movements/lazy eye/cross eye/ and pigmentation of eye.

– Wear high SPF sunscreen at all times of the year, UV protective clothing, and sunglasses.

– Glasses and bifocals are required to help with vision impairments.

PersonalPersonal

• Everyday life for albino’s is pretty typical. Everyday life for albino’s is pretty typical. They can do the same things they normally They can do the same things they normally would if they didn’t have the disorder; they would if they didn’t have the disorder; they can hang with friends, go to movies and can hang with friends, go to movies and restaurants, and travel comfortably. restaurants, and travel comfortably.

• Quality of life is a little bit different. Albino’s Quality of life is a little bit different. Albino’s receive a lot of unfair discrimination because receive a lot of unfair discrimination because of their disorder and can’t enjoy bright sunny of their disorder and can’t enjoy bright sunny days as much because of their sensitivity to days as much because of their sensitivity to the sun’s UV rays. Thus, it causes a reduced the sun’s UV rays. Thus, it causes a reduced quality of life compared to those without the quality of life compared to those without the disorder. disorder.

Personal-Continued Personal-Continued

• Limitations: Limitations: – can’t be exposed to sun for long periods of can’t be exposed to sun for long periods of

time due to increased sensitivity to sunlight.time due to increased sensitivity to sunlight.– Some eye dysfunctions can limit vision Some eye dysfunctions can limit vision

(cross eye, lazy eye, rapid eye movements). (cross eye, lazy eye, rapid eye movements). Vision problems also cause increased Vision problems also cause increased sensitivity to bright light. sensitivity to bright light.

– The possibility of a cure is highly unlikely. The possibility of a cure is highly unlikely. Albinism thus far has been deemed Albinism thus far has been deemed “incurable.”“incurable.”

CopingCoping

• http://www.albinism.org/publications/sochttp://www.albinism.org/publications/social.htmlial.html (NOAH) (NOAH)

• http://www.albinisme.no/files/http://www.albinisme.no/files/

• http://www.medhelp.org/web/hpsn.htmhttp://www.medhelp.org/web/hpsn.htm (Hermansky-Pudlak Syndrome help site)(Hermansky-Pudlak Syndrome help site)

• http://www.visionofchildren.org/http://www.visionofchildren.org/ (helps (helps with vision impairment part of albinism) with vision impairment part of albinism)

Thanks to…Thanks to…

http://en.wikipedia.org/wiki/Albinismhttp://en.wikipedia.org/wiki/Albinismhttp://www.albinism.org/publications/http://www.albinism.org/publications/

what_is_albinism.htmlwhat_is_albinism.htmlhttp://www.nlm.nih.gov/http://www.nlm.nih.gov/

medlineplus/ency/article/001479.htmmedlineplus/ency/article/001479.htmhttp://www.kumc.edu/gec/support/http://www.kumc.edu/gec/support/

albinism.htmlalbinism.html