What is albinism?
Albinism is a rare genetic disorder where you aren’t born with the usual 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 is involved in optical nerve development, so you may have vision problems.
Albinism can affect people of all races and all ethnic groups. In the U.S., about one in every 18,000 to 20,000 people has some type of albinism. In other parts of the world, the ratio is one in every 3,000 people.
What does albino mean?
The word albino comes from the Latin word “albus,” which means white. People with albinism are sometimes called albinos. “A person with albinism” is the preferred term.
Is albinism a disease?
Albinism isn’t a disease. Albinism is a genetic condition that people are born with. It’s not contagious, and it can’t be spread.
What are the different types of albinism?
There are several different types of albinism. Levels of pigmentation vary depending on which type of albinism you have. The 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 affects only your eyes. People with OA usually have blue eyes. Sometimes your irises (colored part of your eyes) are very pale, so your eyes may appear red or pink. This is because the blood vessels inside your eyes show through the irises. 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 along with blood disorders, bruising issues and lung, kidney or bowel diseases.
- Chediak-Higashi syndrome: Chediak-Higashi syndrome is a type of albinism that includes a form of OCA along with immune and neurological issues.
Symptoms and Causes
What causes albinism?
Albinism is caused by mutations in specific genes that are responsible for melanin production.
Is albinism genetic?
Yes, albinism is passed down (inherited) through families. 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 child has a 1 in 4 chance of being born with albinism. If just one parent has an albinism gene, the child won’t have oculocutaneous albinism. But they’ll have a 50% chance of being a carrier of the gene themselves.
What are the symptoms of albinism?
People with albinism may experience the following symptoms:
Diagnosis and Tests
How is albinism diagnosed?
Your healthcare provider may do 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 determine which type of albinism you have.
Management and Treatment
What is the treatment for albinism?
There is no cure for albinism. You must manage the condition by being vigilant about sun protection. You can protect your skin, hair and eyes by:
- Staying out of the sun.
- Wearing sunglasses.
- Covering up with sun-protective clothing.
- Wearing hats.
- Applying sunscreen regularly.
If you have crossed eyes (strabismus), a surgeon may be able to correct the issue with surgery.
Can albinism be prevented?
Albinism is an inherited condition. People with a family history of albinism should consider genetic counseling.
Outlook / Prognosis
What complications can occur because of albinism?
People with albinism may experience any of the following complications:
- Skin problems: Due to their light-colored skin, people with albinism have an increased risk of sunburn. They also have an increased risk of skin cancer.
- Vision problems: People with albinism may be legally blind, but they can learn to use their vision over time. Some people may be able to correct problems with astigmatism, farsightedness and nearsightedness with eyeglasses 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 life span. People with Hermansky-Pudlak syndrome and Chediak-Higashi syndrome are at an increased risk of a shortened life span due to associated conditions.
Can people with albinism live a normal life?
People with albinism can lead normal, healthy lives. However, you should limit the amount of time you spend outdoors due to sun exposure. Some people with albinism deal with social isolation due to the stigma of the condition. You should talk to your family, friends and therapists for support with your condition.
When should I see my healthcare provider?
If you develop any symptoms that cause physical discomfort, call your healthcare provider. Also, call if you noticed any new skin changes.
A note from Cleveland Clinic
While albinism is a rare genetic condition, it can affect people from all walks of life. If you or a family member are suffering from the effects of living with albinism, call your healthcare provider. Albinism can have a profound impact on you and your family. Your healthcare provider can help you navigate the various aspects of living with the condition.
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