What Is Albinism?

What Is Albinism in Humans?

Albinism is a genetic disorder that reduces melanin pigment in the skin, hair and/or eyes.
Albinism is a genetic disorder that reduces melanin pigment in the skin, hair and/or eyes.

Your body produces a type of coloring, or pigment, called melanin. That’s what gives your skin, hair, and eyes their color. Some people’s bodies don’t make much melanin. Or maybe their bodies don’t make any at all. In either case, this condition is called albinism. It’s a condition shared by roughly one in every 20,000 people worldwide.

The result is their skin, hair, and eyes are very light or pale. You can’t treat albinism. But you can protect yourself from the harm it can cause.

What follows is an explanation of albinism and how it can affect someone’s life -- maybe even your own.

What Are the Symptoms of Albinism?

While there are multiple types of albinism, all are closely related genetic conditions. When most people think about it, they picture a person with pale or pink skin and nearly white hair. That’s often the case. But some people with albinism have milder symptoms. In these cases, a person’s skin, eye, and hair color can range from pale or light to brown.

Symptoms of albinism may include:

  • Very pale skin, or skin that is visibly lighter than the skin of a parent or sibling
  • Very light-blond or white hair
  • Light-blue eyes that can appear red in certain lighting

Melanin also plays a role in the growth of brain cells that control vision. And so people with albinism tend to have vision or eye-health issues. These include:

What Causes Albinism?

Albinism is an inherited genetic condition. That means it comes from the DNA you inherit from your parents.

Your parents don’t have to have albinism for you to have it. It’s more likely that each of your parents carries a rare gene for albinism but have no symptoms. But if each of them passed the gene on to you that could lead to your symptoms.

Similarly, if you have albinism, you carry a gene that causes it. But, unless your partner also carries the same mutation, it’s not likely that your children will have albinism. If your partner does have the same gene mutation, it’s still not guaranteed you will have a child with albinism. The chance you might is one in four.

Types of Albinism

There are two categories for several types of albinism. They are:

  • Ocular albinism (OA), which is very rare and only affects a person’s eyes
  • Oculocutaneous albinism (OCA), which affects the eyes, hair, and skin

OCA is the most common category of albinism. It can stem from several different genetic factors. Doctors define the type of OCA a person has based on the gene that causes the symptoms.

For example, “OCA1” happens because a gene that normally changes a body enzyme into pigment doesn’t work the way it should. So far, doctors have identified seven different genetic issues that cause albinism in people with OCA. Doctors saw OCA 5-7 in humans for the first time in 2012.

How Is Albinism Diagnosed?

Doctors usually diagnose albinism in babies or small children.

They do this with several exams or tests. These typically include:

  • Checking a person’s skin and hair for signs of albinism
  • Eye exams with an ophthalmologist (eye doctor) for signs of albinism
  • Genetic testing to determine the type of albinism a person has

Prevention, Complications, and Protecting Your Skin and Eyes

There’s no way to prevent albinism in someone already born with it. But if you have a family history of albinism, genetic counseling can help you and your partner figure out if your kids will be at risk. A genetic counselor can discuss family planning options, too.

Albinism Complications

Albinism can cause several complications. These include:

  • Vision problems like those mentioned above
  • Sunburns and an elevated risk for skin cancer
  • Social discomfort or other mental health issues

Protecting Your Skin and Eyes

There is no cure or treatment for albinism. You can, though, protect yourself against some problems it can cause. If you have albinism, your skin and eyes are sensitive to damage from UV light.

To protect yourself from skin cancer and other UV-related problems, you should:

  • Avoid spending too much time outside in the daylight.
  • If you do have to be in the sun, wear a high-SPF, broad-spectrum sunscreen with protective hats and clothing.
  • Wear sunglasses that provide UV protection.
  • Get annual eye and skin exams to catch any problems early.

What Is the Prognosis for Someone With Albinism?

In the U.S., most people with albinism live just as long as those who don’t have the condition. Apart from vision and skin problems, they do not suffer from higher rates of other diseases. But, people with albinism might need to learn to cope with other people’s negative reactions to albinism throughout their lifetime. Some people find it useful to join support groups or meet others with albinism.

References
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U.S. National Center for Advancing Translational Sciences: “Albinism.”

Mayo Clinic: “Albinism: Symptoms & Causes,” “Albinism: Diagnosis & Treatment.”

National Organization for Albinism and Hypopigmentation: “Information Bulletin: What Is Albinism?” “Information Bulletin: Social Aspects of Albinism.”
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