Albinism

Albinism- The word “albinism” refers to a group of inherited

conditions. People with albinism have little or no pigment in their

eyes, skin, or hair. They have inherited altered genes that do not

make the usual amounts of a pigment called melanin.

Albinism is also known as Oculocutaneous albinism, Ocular albinism and, Hermansky-Pudlak syndrome

Inheritance Pattern

The genes for OCA are located on “autosomal” chromosomes. Autosomes are the chromosomes that contain genes for our general body characteristics, contrasted to the sex chromosomes. We normally have two copies of these chromosomes and the genes on them – one inherited from our father, the other inherited from our mother. Neither of these gene copies is functional in people with albinism. However, albinism is a “recessive trait”, so even if only one of the two copies of the OCA gene is functional, a person can make pigment, but will carry the albinism trait. Both parents must carry a defective OCA gene to have a child with albinism. When both parents carry the defective gene (and neither parent has albinism) there is a one in four chance at each pregnancy that the baby will be born with albinism. This type of inheritance is called “autosomal recessive” inheritance.

• In ocular albinism, only the eyes lack pigment. People who have ocular albinism have generally normal skin and hair color, although it is typically lighter than either parent. Many even have a normal eye appearance. Also, ocular albinism is generally sex-

linked, therefore males are more likely to be affected. Males are without another X chromosome to mask recessive alleles on the X they inherit.

• Other than that exception the disorder is equally distributed throughout all people

Who is more likely to get this disorder???

• Albinism affects the eyes, hair, and skin tone. Since the person with this disorder lacks melanin in there body there hair and skin are very pale or even white. In severe cases the person may have red eyes as well. Because of this you can usually recognize when a person has albinism. • The most sever case of albinism is oculocutaneous albinism which is when a person has white or pink hair, skin, and iris color, as well as vision problems.• A person with albinism may also experience crossed eyes, light sensitivity, and rapid eye movements.

Symptoms

Who common is Albinism?

The statistics reflect that about one person in seventeen thousand has a form of albinism.

Deadly?

Albinism does not usually affect lifespan nor is it deadly. Hermansky-Pudlak syndrome can, however, shorten lifespan due to lung disease or bleeding problems

Can you be tested for the disorder?

• Genetic testing offers the most accurate way to diagnose albinism. Such testing is helpful if you have a family history of albinism. It is also useful for certain groups of people who are known to get the disease.

• Your doctor may also diagnose the condition based on the appearance of your skin, hair, and eyes. An ophthalmologist should perform a electroretinogram test, which can reveal vision problems related to albinism.

Treatment?

The goal of treatment is to relieve symptoms.

• Reduce sunburn risk by avoiding the sun, using sunscreen, and covering up with clothing completely when in the sun.• Sunscreen should have a very high SPF• Sunglasses that will help light sensitivity

Support Groups?

National Organization for Albinism and Hypopigmentation -- www.albinism.org

International Albinism Center -- www.med.umn.edu/ophthalmology/centers/albinism/home.html

Hermansky-Pudlak Syndrome Network -- www.hpsnetwork.org

Interesting facts• There is a belief that a person or animal with albinism will become blind halfway through life. This is NOT true.

• Albinism in fish is highly affected by the eggs exposure to heavy metals.

• When people have eyes that appear red it is not because the iris is red, it’s colorless. The red is the blood vessels showing through

• In urban legend, the spot on the 7 up logo comes from it’s albino inventor who had red eyes

"NOAH — What Is Albinism?" NOAH — The National Organization for Albinism and Hypopigmentation. Web. 26 Jan. 2011. <http://www.albinism.org/publications/what_is_albinism.html>.

"Albinism - Symptoms, Diagnosis, Treatment of Albinism - NY Times Health Information." Health News - The New York Times. Web. 26 Jan. 2011. <http://health.nytimes.com/health/guides/disease/albinism/overview.html>.

"Albinism Facts." Warts. Web. 26 Jan. 2011. <http://www.warts.org/library/albinism-facts.htm>.