What Is Albinism? What Causes Albinism

Date: May-25-2012Albinism is a genetic condition also called achromia, achromasia, or achromatosis. It is characterized by a deficit in the production in melanin and by the partial or complete absence of pigment in the skin, hair and eyes. This hereditary disease can be found in humans (affecting all races), mammals, birds, fish, and amphibians.

Even though it is a hereditary condition, in most cases, there's no family history of albinism.

People with albinism often have vision problems and are susceptible to sunburns and skin cancers if they do not protect themselves from direct sunlight.

According to The National Organization for Albinism and Hypopigmentation, one in every 17,000 people in the United States has some type of albinism.

According to Medilexicon's medical dictionary, Albinism is:

"A group of inherited (usually autosomal recessive) disorders with deficiency or absence of pigment in the skin, hair, and eyes, or eyes only, resulting from an abnormality in melanin production."

An albino girl in Papua New Guinea
What are the signs and symptoms of albinism?
Since birth, people with albinism have little or no pigmentation in their eyes, skin and hair (oculocutaneous albinism) or sometimes in the eyes alone  (ocular albinism).

The degree of pigmentation varies. Some people gain a little pigmentation in their hair or eyes with age. Some develop pigmented freckles on their skin. An individual with complete absence of melanin is called an albino. One with only a small amount of melanin is described as albinoid.

People with albinism are very pale with fair hair and very light eyes. In some people, the eyes appear red or purple, depending on the amount of pigment. This can happen because the iris actually has very little color. The eyes appear pink or red because the blood vessels inside of the eye show through the iris.

A person with albinism is generally as healthy as the rest of the population. However, problems with vision and skin are particularly common.

Vision Problems. Vision problems in albinism result from abnormal development of the retina and abnormal patterns of nerve connections between the eye and the brain. Most people with albinism have problems with their eyesight; many have low vision. Lack of pigment in the eyes results in problems with eyesight, both related and unrelated to photosensitivity. This sensitivity generally leads to discomfort in bright light.

Skin problems. The dark pigment - melanin - helps protect the skin from the sun's ultraviolet radiation. People with albinism lack this pigment; their skin can burn more easily from overexposure. They need to take precautions to avoid damage to the skin caused by the sun; this means applying sunscreen lotions, and wearing hats and sun-protective clothing.

Albinism can be found in mammals, birds, fish, and amphibians

What causes albinism?
A person inherits one or more defective genes that cause them to be unable to produce the normal amounts of a pigment called melanin. Several different genes are involved in albinism, depending on the specific type.

Researchers have identified several genes that result in albinism. The genes are located on "autosomal" chromosomes. Autosomes are the chromosomes that contain genes for general body characteristics.

Genes carry the information that makes you an individual. We normally have two copies of these chromosomes and genes: one inherited from our father, the other inherited from our mother. Albinism is a "recessive trait" - a person without albinism can carry the albinism trait.

Both parents must carry a defective gene to have a child with albinism. When neither parent has albinism but both carry the defective gene, there is a one in four chance that the baby will be born with albinism.

Diagnosing albinism
Most people with albinism are fair in complexion, skin or hair color. However, physical appearance is not a diagnostic of albinism. It is the presence of eye problems that defines the diagnosis of albinism.

Therefore, the main test for albinism is simply an eye examination.
What are the treatment options for albinism?
There is no cure for albinism. Treatments and aids can help the symptoms and reduce the risk of damage to the skin and eyes.

Precautions in avoiding exposure to UV light, using high-factor sunscreen, protective clothing and hats are essential.

Coping with eye problems can be achieved by seeking advice from optometrists and ophthalmologists.

Surgery may be required on the ocular muscles to decrease some of the vision problems.

Treatment of the eye conditions consists of visual rehabilitation. Vision aids, such as glasses, bifocals, prescription reading glasses, magnifiers or monoculars, colored contact lenses, bright reading lights, can help individuals with albinism.

Some people use bioptics - glasses with small telescopes mounted on. Some individuals use screen magnification products on computers.
Prenatal Testing
For couples who have not had a child with albinism, there is no straightforward test to determine whether a person carries a defective gene for albinism. Large genetic studies on albinism have been inconclusive, making it look less likely that, at least for the medium-term, effective genetic tests are possible.

In the case of parents who already have a child with albinism. It is possible to test using either amniocentesis (introducing 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.
Social and cultural challenge
People with albinism are at risk of social isolation, because the condition is often misunderstood. They face social and cultural challenges. Albinism is often a source of mockery, discrimination, prejudice, and in some cases fear and violence.

In communities of color there can be social stigmatization. Old beliefs regarding people with albinism still exist in different cultures around the world. Society in general and communities must make an effort not to exclude people with albinism.

Participation in support groups can be helpful for children and adults with albinism. These groups can help the individual feel less isolated, learn positive attitudes, and discover coping skills from others with low vision.

Written by Christian Nordqvist

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