Albinism

Albinism is an inherited condition in which a person lacks the usual amount of the pigment melanin, which is the substance that gives color to skin, hair, and eyes.

What Is Albinism?

Albinism (AL-bi-niz-im) is a group of disorders that occur when a person inherits various genes * that are defective in their ability to make the pigment melanin (MEL-a-nin). Melanin is the main substance that determines a person's skin, hair, and eye color. In the United States, albinism affects approximately one in 17,000 people, although certain types of albinism are more prevalent among specific groups of people. In some parts of Africa, for instance, about one in 1,000 people experience the condition. The outward signs of albinism vary according to the amount of pigment a person has, and many people with albinism have skin much lighter than that of their family members. Caucasians with albinism may have white to light-blond hair, pinkish-white skin, and blue eyes, while people who are black may have yellowish hair, skin with a cream-colored tint, and hazel or green eyes. In some people with albinism, the eyes look pink because they contain no pigment to mask the red of the blood vessels in the retina * .

Albinism always affects vision to some degree. The genes responsible for albinism cause abnormal development of the nerve connections between the eyes and the brain. The retina and the iris (the colored portion of the eye) are also affected by albinism.




Many people with albinism have skin and eyes much lighter than that of their family members. People with albinism often have vision problems and must take care to protect their skin from sunburn.

What Causes Albinism?

Albinism refers to a group of inherited disorders that are often divided into two major categories: oculocutaneous albinism, or OCA, which involves eye, hair, and skin color; and ocular albinism, which mainly affects the eyes. Some of these disorders and their causes are:

Resources

Books and Articles

Urquhat, Emily. Beyond the Pale: Folklore, Family and the Mystery of Our Hidden Genes. New York: Harper, 2015.

Websites

Vision for Tomorrow. “Genetics and Types of Albinism.” The Vision for Tomorrow Foundation. http://www.visionfortomorrow.org/geneticsof-albinism (accessed June 16, 2015).

Organizations

American Association for Pediatric Ophthalmology and Strabismus. 655 Beach St., San Francisco, CA 94109. Telephone: 415-561-8505. Website: http://www.aapos.org (accessed June 1, 2015).

Hermansky-Pudlak Syndrome Network. One South Rd., Oyster Bay, NY 11771-1905. Toll-free: 800-789-9477. Website: http://www.hpsnetwork.org (accessed June 1, 2015).

National Organization for Albinism and Hypopigmentation (NOAH). PO Box 959, East Hampstead, NH 03826-0959. Toll-free: 800-473-2310. Website: http://www.albinism.org (accessed June 1, 2015).

* genes (JEENS) are chemical structures composed of deoxyribonucleic acid (DNA) that help determine a person's body structure and physical characteristics. Inherited from a person's parents, genes are contained in the chromosomes found in the body's cells.

* retina (REH-tuh-na) is the tissue that forms the inner surface of the back of the eyeballs; it receives the light that enters the eye and transmits it through the optic nerves to the brain to produce visual images.

* enzyme (EN-zime) is a protein that helps speed up a chemical reaction in cells or organisms.

* chromosome (KRO-mo-zom) is a unit or strand of DNA, the chemical substance that contains the genetic code to build and maintain a living being. Humans have 23 pairs of chromosomes, for a total of 46.

Disclaimer:   This information is not a tool for self-diagnosis or a substitute for professional care.

(MLA 8th Edition)