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.
Medical- Continued • 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 If both parents are heterozygous, there is a %25 chance their child will have albinism. A a
Medical-Continued • 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.
Medical- Continued (again!!) • 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.
Medical- Continued • 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.
Personal • Everyday life for albino’s is pretty typical. They can do the same things they normally would if they didn’t have the disorder; they can hang with friends, go to movies and restaurants, and travel comfortably. • Quality of life is a little bit different. Albino’s receive a lot of unfair discrimination because of their disorder and can’t enjoy bright sunny days as much because of their sensitivity to the sun’s UV rays. Thus, it causes a reduced quality of life compared to those without the disorder.
Personal-Continued • Limitations: • can’t be exposed to sun for long periods of time due to increased sensitivity to sunlight. • Some eye dysfunctions can limit vision (cross eye, lazy eye, rapid eye movements). Vision problems also cause increased sensitivity to bright light. • The possibility of a cure is highly unlikely. Albinism thus far has been deemed “incurable.”
Coping • http://www.albinism.org/publications/social.html (NOAH) • http://www.albinisme.no/files/ • http://www.medhelp.org/web/hpsn.htm (Hermansky-Pudlak Syndrome help site) • http://www.visionofchildren.org/ (helps with vision impairment part of albinism)
Thanks to… • http://en.wikipedia.org/wiki/Albinism • http://www.albinism.org/publications/what_is_albinism.html • http://www.nlm.nih.gov/medlineplus/ency/article/001479.htm • http://www.kumc.edu/gec/support/albinism.html