What are the different types of albinism?

Albinism is a rare genetic condition caused by mutations in certain genes that affect the amount of melanin your body produces. Melanin controls the pigmentation (color) of your skin, eyes, and hair. People with albinism have extremely pale skin, eyes, and hair. They are at high risk for vision, skin, and social problems.

What is albinism?

Albinism is a rare genetic disorder in which you are not born with a normal amount of melanin pigment. Melanin is a chemical in your body that determines the color of your skin, hair, and eyes. Most people with albinism have very pale skin, hair, and eyes. They are prone to sunburn and skin cancer. Melanin also plays a role in optic nerve development, so you may have vision problems.

Albinism can affect people of all races and ethnic groups. About one in every 18,000 to 20,000 people in the United States has some form of albinism. In other parts of the world, this rate is one in every 3,000 people.

What does albino mean?

The word albino comes from the Latin word “albus” meaning white. People with albinism are sometimes called albinos. “A person with albinism” is the preferred term.

Is albinism a disease?

Albinism is not a disease. Albinism is a genetic condition that people are born with. It is not contagious and cannot spread.

What are the different types of albinism?

There are several different types of albinism. Pigmentation levels vary depending on the type of albinism you have. Different types of albinism include:

  • Oculocutaneous albinism: Oculocutaneous (pronounced “ock-you-low-kew-TAIN-ee-us”) albinism, or OCA, is the most common type of albinism. People with OCA have extremely pale hair, skin, and eyes. There are seven different subtypes of OCA caused by mutations in one of seven genes (OCA1 to OCA7).
  • Ocular albinism: Ocular albinism, or OA, is much less common than OCA. Ocular albinism only affects your eyes. People with OA often have blue eyes. Sometimes your irises (the colored part of your eyes) are very pale, so your eyes may appear red or pink. This is because the blood vessels in your eyes are visible through the iris. Your skin and hair color are usually normal.
  • Hermansky-Pudlak syndrome: Hermansky-Pudlak syndrome, or HPS, is a type of albinism that includes a form of OCA with blood disorders, bruising problems, and lung, kidney, or intestinal diseases.
  • Chediak-Higashi syndrome: Chediak-Higashi syndrome is a type of albinism that includes a form of OCA with immune and neurological problems.

What causes albinism?

Albinism is caused by mutations in specific genes responsible for melanin production.

Is albinism genetic?

Yes, albinism runs in families (it is inherited). People are born with albinism when they inherit an albinism gene from their parents.

In oculocutaneous albinism, both parents must carry an albinism gene for their child to be born with albinism. The probability of a child being born with albinism is 1 in 4. If only one parent has the albinism gene, the child will not have oculocutaneous albinism. However, they will have a 50% chance of being carriers of the gene.

What are the symptoms of albinism?

People with albinism may experience the following symptoms:

  • Very pale skin, hair, and eyes.
  • Missing skin pigment patches.
  • Crossed eyes (strabismus).
  • Rapid eye movements (nystagmus).
  • vision problems.
  • Light sensitivity (photophobia).

How is albinism diagnosed?

Your healthcare provider may perform a physical exam and examine your skin, hair, and eyes. However, a genetic test will provide the most accurate results and help determine which gene is mutated. This DNA test will help you identify the type of albinism you have.

What is albinism treatment?

There is no cure for albinism. You should manage the situation by being careful about sun protection. Here’s how you can protect your skin, hair, and eyes:

  • To stay away from the sun.
  • Wearing sunglasses.
  • Cover with sun protective clothing.
  • Wearing a hat.
  • Applying sunscreen regularly.
  • If you have had strabismus (strabismus), a surgeon can correct the problem with surgery.

Can albinism be prevented?

Albinism is an inherited condition. People with a family history of albinism should consider genetic counseling.

What complications can occur due to albinism?

People with albinism may experience any of the following complications:

  • Skin problems: Because of their fair skin, people with albinism are at higher risk of sunburn. There is also a high risk of skin cancer.
  • Vision problems: People with albinism may be legally blind, but over time they can learn to use their vision. Some people can correct problems with astigmatism, farsightedness, and myopia with glasses or contacts.
  • Social problems: People with albinism are at an increased risk of isolation due to the social stigma behind the condition.

What is the outlook for albinism?

Most people with albinism live a normal lifespan. People with Hermansky-Pudlak syndrome and Chediak-Higashi syndrome are at risk of a shortened life expectancy due to associated conditions.

Can people with albinism live a normal life?

People with albinism can lead a normal, healthy life. But you should limit the time you spend outside due to sun exposure. Some people with albinism deal with social isolation because of the stigma of the condition. You should talk to your family, friends, and therapists for support with your situation.

When should I see my healthcare professional?

Call your healthcare provider if you develop any symptoms that cause physical discomfort. Also, call if you notice any new skin changes.

A Note

While albinism is a rare genetic condition, it can affect people from all walks of life. Call your healthcare provider if you or a family member suffers from the effects of living with albinism. Albinism can have a profound effect on you and your family. Your healthcare provider can help you navigate various aspects of living with this condition.

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