ALBINISM

By Rachael Scarlett & Tyler Rodney Ms. Bernard (6th Period) April 2, 2012

Cause And Inheritance

Cause: It is an autosomal disease. A mutation may result in no melanin production at all or a significant decline in the amount of melanin. Melanin is produced by cells called melanocytes, which are found in your skin and eyes.
Inheritance: Albinism is a recessive trait. In order to have albinism, a person must inherit two copies of a mutated gene, one being from each parent.

ALBINISM AND THE BODY

Symptoms
A person with albinism will have 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 Many forms of albinism are associated with the following symptoms: Crossed eyes Light sensitivity Rapid eye movements Vision problems, or functional blindness

Effect On The Body

Since albinism results in a lack of melanin (or pigment), people with the disorder are sensitive to the sun. People with albinism may get bad sunburns after very short exposure to the sun; they must also be careful to shield their eyes from the damage the sun's ultraviolet rays can cause over time. Albinism affects vision, too. The particular gene mutation linked to albinism interferes with the proper development of the nerves associated with the eye as well as the retina itself. Someone affected by albinism may have an astigmatism, near- or farsightedness, difficulty focusing both eyes on the same point , fast, and involuntary eye movements.

Effects On The Body(cont.)

Skin milky white skin, skin pigmentation can range from white to brown, and may be nearly the same as that of parents or siblings without albinism. For some people with albinism, skin pigmentation never changes. For others, melanin production may begin or increase during childhood and adolescence, resulting in slight changes in pigmentation. With exposure to the sun, some people may develop: Freckles Moles, with or without pigment Large freckle-like spots The ability to tan Hair Hair color can range from very white to brown. People of African or Asian descent who have albinism may have hair color that is yellow, reddish or brown. Hair color may also change by early adulthood.

Effects On The Body(cont.)

Eye color Eye color can range from very light blue to brown and may change with age. The lack of pigment in the colored part of the eyes (irises) makes them somewhat translucent. This means that the irises can't completely block light from entering the eye. Because of this translucence, very light-colored eyes may appear red in some lighting. This occurs because you're seeing light reflected off the back of the eye and passing back out through the iris again similar to red eye that occurs in a flash photograph. Vision (Ocular Albinism) Signs and symptoms of albinism related to eye function include: Rapid, involuntary back-and-forth movement of the eyes Inability of both eyes to stay directed at the same point or to move in unison (strabismus) Extreme nearsightedness or farsightedness Sensitivity to light (photophobia) Astigmatism melanin production may begin or increase during childhood and adolescence, resulting in slight changes in pigmentation. Albinism results in the body failing to produce melanin, the pigment that colors our hair, skin, and eyes

Everyday Life With Albinism

Vision problems and protecting the skin are the biggest health problems for people with albinism. The lack of pigment makes eyes and skin very sensitive to sunlight and the skin prone to burning. Vision problems vary from person to person. Some people simply need glasses to correct their vision, but others need surgery. Some people can see well enough to drive a car, whereas others are legally blind. All people with albinism need consistent and continuing eye care. People with albinism also face social and emotional hurdles as they learn to live with being different. Emotional support from family and friends is essential to building self-esteem in a child with albinism. One of the most serious complications associated with albinism is the risk of sunburn and skin cancer. The reactions of other people to those with albinism can often have a negative impact on people with the condition: Children with albinism may experience name-calling, teasing or questions regarding their appearance, eyewear or visual aid devices. Many people with albinism find the word "albino" hurtful because they're being labeled simply on the basis of a condition rather than being thought of as individuals. A long history of myths has attributed supernatural powers or deviant personalities to people with albinism. People with albinism usually look very different from members of their own families or ethnic groups and, therefore, may either feel like outsiders or be treated like outsiders. All of these factors may contribute to social isolation, poor self-esteem and stress.

Life Expectancy
People with albinism can expect to have a normal lifespan. But in the case of those suffering from Hermansky-Pudlak syndrome, the life expectancy can be reduced due to lung disease or bleeding disorders. Albinos who have developed skin cancer may also experience a lower expectancy. People with albinism may face some social problems because of a lack of understanding on the part of others. Albinism does not cause a delay in development nor mental retardation.
There is no known way to prevent albinism.

Seeking Help
Hermansky-Pudlak Syndrome Network New York, NY 10001 A NOAH affiliate providing information and support Phone: 800-AFB-LIND to individuals and families with HPS Web: www.afb.org One South Road Canadian National Institute for the Blind (CNIB) Oyster Bay, NY 11771-1905 1929 Bayview Avenue Phone: 800-789-9HPS Toronto, ON M4G 3E8 Web: www.hpsnetwork.org Phone: 800-563-2642 Positive Exposure Web: www.cnib.ca A nonprofit organization offering innovative National Society of Genetic Counselors photographic exhibits, challenging the stigma Maintains a referral list of genetic counselors associated with difference and celebrating the Phone: 610-872-7608 richness of genetic variation. Web: www.nsgc.org 43 E. 20th St., 6th Floor New York, NY 10003 National Organization for Albinism and Phone: 212-420-1931 Hypopigmentation (NOAH), 1530 Locust Street, Web: www.positiveexposure.org Number 29, Philadelphia, PA 19102-4415. American Foundation for the Blind (AFB) Telephone 800-473-2310 Provides information about programs and clinics http://www.albinism.org for people with impaired vision throughout the United States 11 Penn Plaza, Suite 300

Diagnosis
Albinism can be diagnosed by observation of major or total absence of pigmentation of the appearance of the skin, hair, and eyes. An ophthalmologist should perform a complete examination of the eye of an affected individual. An electroretinogram test should be done to determine brain waves which reveals the abnormal wiring of the visual system in ocular forms of albinism. Chemical testing of hair also provides an easy confirmation of the diagnosis of albinism. The Hairbulb pigmentation test, used to identify carriers, is done by incubating a piece of the person's hair in a solution of tyrosine, an amino acid the body uses to make melanin. If the hair turns dark, it means the hair is making melanin. Light hair means there is no melanin synthesis. The tyrosinase test, which is more precise than the Hairbulb pigmentation test, measures the rate at which hair converts tyrosine into another chemical (DOPA), which is then made into pigment. The most accurate way to determine albinism and its specific type is genetic testing. This is helpful in families with albinism and is useful for specific, isolated populations who carry the trait in them. Recently, a blood test has been developed that can identify carriers of the gene for some types of albinism. Amniocentesis and chorionic villus sampling can also diagnose some types of albinism in pregnancy.

Treatment
THERE IS NO CURE FOR ALBINISM!!
However, there are a few measure you can take to lessen your condition: Treatment is aimed to ease the symptoms and it depends on the extent of the disorder. Treatment of the eye conditions consists of visual rehabilitation. Optometrists or ophthalmologists recommend various optical aids. Young children may simply need glasses, and older children can sometimes benefit from bifocal glasses. The most promising treatment for nystagmus is the eye muscle surgery that reduces the movement of the eyes but vision may not improve in all cases due to other associated eye abnormalities. For photophobia, the eye doctors prescribe dark glasses that shield the eyes from bright light. In case of strabismus, ophthalmologists prefer to treat the infants at the age of six months before the function of their eyes has developed fully. They may recommend that parents patch one eye to promote the use of the non-preferred eye. It is vital that people with albinism use sunscreen when exposed to sunlight to prevent premature skin aging or skin cancer. Special UV-proof clothing and swimsuits are available and are a good alternative to excessive use of sunscreen.

Struggle For Survival

In African countries such as Tanzania and Burundi, there has been an unprecedented rise in witchcraft-related killings of albino people in recent years, because their body parts are used in potions sold by witchdoctors. Numerous authenticated incidents have occurred in Africa during the 21st Century. For example, in Tanzania, in September 2009, three men were convicted of killing a 14-year-old albino boy and severing his legs in order to sell them for witchcraft purposes. Again in Tanzania and Burundi in 2010, the murder and dismemberment of a kidnapped albino child was reported from the courts, as part of a continuing problem. Another harmful and false belief is that sex with an woman with albinism will cure a man of HIV. This has led, for example in Zimbabwe, to rapes (and subsequent HIV infection). Certain ethnic groups and insular areas exhibit heightened susceptibility to albinism, presumably due to genetic factors. These include notably the Native American Kuna and Zuni nations (respectively of Panama and New Mexico); Japan, in which one particular form of albinism is unusually common; and Ukerewe Island, the population of which shows a very high incidence of albinism.

Fun Facts
There are two types of Albinism. They are Oculocutaneous Albinism (OCA +/)and Ocular Albinism (OA). However, Oculocutaneous Albinism is divided into two categories; tyrosinase negative (OCA-) is reduced pigment in the skin and eyes due to lack of enzyme tyrosinase and tyrosinase positive (OCA+) is reduced pigment (melanin) in skin and eyes, where the enzyme tyrosinase is present, but other factors reduce the production of melanin. Ocular Albinism is reduced pigment in the eyes only. When you are have albinism, you dont have completely white eyes. The eye color of a person with albinism may appear pale blue, red or purple. Albinism also affects PLANTS AND ANIMALS! Famous people with albinism include historical figures such as Emperor Seinei of Japan, and Oxford don William Archibald Spooner; actorcomedian Victor Varnado; musicians such asJohnny and Edgar Winter, Salif Keita, Winston "Yellowman" Foster, Brother Ali, Sivuca, Willie "Piano Red" Perryman; and fashion model Connie Chiu. It is estimated that about one in 70 people carry a recessive gene for albinism and about 1 in every 17,000 people have albinism disorder in the United States.

Myths About Albinism

Cultures around the world have developed many myths and superstitions regarding people with albinism. Some of the common misconceptions are: Albino individuals of a species are sterile. This is not true as albinos are capable of reproduction. In Jamaica, people with albinism are regarded as cursed, and therefore degraded. In some cultures, people with albinism are thought to have magical powers, or are able to tell the future. People with albinism are retarded or deaf. Albinism results from inbreeding or the mixture of two races. Persons with albinism always have red eyes. Persons with albinism are totally blind. Albinism is contagious.

Picture Time

Bibliography
http://www.humanillnesses.com/original/A-As/Albinism.html#b http://www.medindia.net/patients/patientinfo/Albinism-Treatment.htm http://www.albinism.org/publications/what_is_albinism.html http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002450/

http://www.scientificamerican.com/article.cfm?id=killing-albinos-tanzania-albinism
http://en.wikipedia.org/wiki/Albinism

Testing YOUR Knowledge On Albinism

1) 2) Q: What type of genetic trait is Albinism? What is the only way you can get albinism? A: Its a recessive trait. In order to have albinism, a person must inherit two copies of a mutated gene, one being from each parent. Q: Name the two types of Albinism. A: Oculocutaneous Albinism (OCA +/-) and Ocular Albinism (OA). Q: Why do many people take the word albino into offense? A: They're being labeled simply on the basis of a condition rather than being thought of as individuals. Q: Does albino only effect humans? If not, give an example. A: No. It also affects animals and plants like the zebras and smokebush. Q:Provide three different effect Albinism can have on the body. 3) 4) 5) 6)

7) 8) 9)