Albinism - My brother is an Albino

NOAH - The National Organization for Albinism and Hypopigmentation
What is 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. One person in 17,000 in the U.S.A. has some type of albinism. Albinism affects people from all races. Most children with albinism are born to parents who have normal hair and eye color for their ethnic backgrounds. Sometimes people do not recognize that they have albinism. A common myth is that people with albinism have red eyes. In fact there are different types of albinism and the amount of pigment in the eyes varies. Although some individuals with albinism have reddish or violet eyes, most have blue eyes. Some have hazel or brown eyes. However, all forms of albinism are associated with vision problems.

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It took us a while to find just the cat for Dominic. However, sometimes these things actually just seem to find their way to you. His cat "Gamma Ray" was stuck in a small glass display cage at Pet Supermarket under the care of a Cat Adoption Service. Of course, each time we went to see this cute little kitty, it was always there. Runny nose, wonky eyes that leak and for the most part severely visually impaired. Not the cat that most people want to take home right? This little cat was scared to death of just about everything that moved and stayed hidden under its little green bed all the time.

Needless to say, we managed to adopt her. Gamma Ray, came home with us and was introduced to Dominic as a surprise. As you can see, the two of them share a very special bond. A win win situation.

Watch A News Video Featuring Dominic and his friends CLICK HERE

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.

Ocular albinism (OA1) is caused by a genetic defect of the GPR143 gene that plays a signaling role that is especially important to pigmentation in the eye. OA1 follows a simpler pattern of inheritance because the gene for OA1 is on the X chromosome. Females have two copies of the X chromosome while males have only one copy (and a Y chromosome that makes them male). To have ocular albinism, a male only needs to inherit one defective copy of the gene for ocular albinism from his carrier mother. Therefore almost all of the people with OA1 are males. Indeed, parents should be suspicious if a female child is said to have ocular albinism.

For couples who have not had a child with albinism, there is no simple test to determine whether a person carries a defective gene for albinism. Researchers have analyzed the DNA of many people with albinism and found the changes that cause albinism, but these changes are not always in exactly the same place, even for a given type of albinism. Moreover, many of the tests do not find all possible changes. Therefore, the tests for the defective gene may be inconclusive.

If parents have had a child with albinism previously, and if that affected child has had a confirmed diagnosis by DNA analysis, there is a way to test in subsequent pregnancies to see if the fetus has albinism. The test uses either amniocentesis (placing a needle into the uterus to draw off fluid) or chorionic villous sampling (CVS). Cells in the fluid are examined to see if they have an albinism gene from each parent.

For specific information and genetic testing, seek the advice of a qualified geneticist or genetic counselor. The American College of Medical Genetics and the National Society of Genetic Counselors maintain a referral list. Those considering prenatal testing should be made aware that people with albinism usually adapt quite well to their disabilities and lead very fulfilling lives.

People with albinism always have problems with vision (not correctable with eyeglasses) and many have low vision. The degree of vision impairment varies with the different types of albinism and many people with albinism are "legally blind," but most use their vision for many tasks including reading and do not use Braille. Some people with albinism have sufficient vision to drive a car. Vision problems in albinism result from abnormal development of the retina and abnormal patterns of nerve connections between the eye and the brain. It is the presence of these eye problems that defines the diagnosis of albinism. Therefore the main test for albinism is simply an eye examination.
Skin Problems

While most people with albinism are fair in complexion, skin or hair color is not diagnostic of albinism. People with many types of albinism need to take precautions to avoid damage to the skin caused by the sun such as wearing sunscreen lotions, hats and sun-protective clothing.
Types of Albinism

While most people with albinism have very light skin and hair, not all do. Oculocutaneous (pronounced ock-you-low-kew-TAIN-ee-us) albinism (OCA) involves the eyes, hair and skin. Ocular albinism (OA), which is much less common, involves primarily the eyes, while skin and hair may appear similar or slightly lighter than that of other family members.

Over the years, researchers have used various systems for classifying oculocutaneous albinism. In general, these systems contrasted types of albinism having almost no pigmentation with types having slight pigmentation. In less pigmented types of albinism, hair and skin are cream-colored and vision is often in the range of 20/200. In types with slight pigmentation, hair appears more yellow or red-tinged and vision may be better. Early descriptions of albinism called these main categories of albinism "complete" and "incomplete" albinism. Later researchers used a test that involved plucking a hair root and seeing if it would make pigment in a test tube. This test separated "ty-neg" (no pigment) from "ty-pos" (some pigment). Further research showed that this test was inconsistent and added little information to the clinical exam.

Recent research has used analysis of DNA, the chemical that encodes genetic information, to arrive at a more precise classification system for albinism. Four forms of OCA are now recognized - OCA1, OCA2, OCA3 and OCA4; some are further divided into subtypes.