Albinism

What is albinism?

Albinism is a genetic disorder where you’re born with less melanin pigment than usual. Melanin is a chemical in your body that determines the color of your skin, hair and eyes. It’s also involved in optic nerve development, which means it helps your eyes function as they should.

Most people with albinism have very pale skin, hair and eyes. The exact skin tone, hair color and eye color can vary from person to person. Most people with this condition also have vision problems ranging from mild to severe.

What does albino mean?

The word “albino” comes from the Latin word “albus,” which means white. You might hear someone use “albino” to refer to a person with albinism. But healthcare providers and many people with this condition prefer to use “a person with albinism.” This term puts the person first rather than using a medical condition to define their identity.

What are the different types of albinism?

There are two main types of albinism:

• Oculocutaneous albinism (OCA): Oculocutaneous (pronounced “ock-you-low-kew-TAIN-ee-us”) albinism is the most common type of albinism. People with OCA have extremely pale hair, skin and eyes. They typically also have vision problems. There are seven forms of OCA, and each affects your body in a slightly different way. For example, your hair and skin may be lighter or darker depending on the specific form of OCA you have.
• Ocular albinism (OA): Ocular albinism is much less common than OCA. Ocular albinism mostly affects your eyes. It doesn’t affect your skin or hair much, if at all. OA usually leads to blurred vision, sensitivity to light and other symptoms that may affect how you see and interact with the world around you.

Albinism is sometimes a feature of a genetic syndrome. This means you have OCA or OA, as well as other medical conditions affecting different parts of your body. For example, albinism occurs as part of:

• Hermansky-Pudlak syndrome (HPS): This is a genetic metabolic disorder. People with HPS have albinism, as well as blood disorders, bruising issues and lung, kidney or bowel diseases.
• Chediak-Higashi syndrome (CHS): This is a genetic immune disorder that makes you more vulnerable to infections. People with CHS also commonly have albinism and may bruise or bleed more easily than expected.

How common is albinism?

Albinism can affect people of all races and ethnic groups, including people who are Black. Researchers estimate that OCA affects 1 in 20,000 people around the world. OA affects at least 1 in 60,000 people assigned male at birth.

What are the signs and symptoms of albinism?

Albinism typically affects the appearance of your skin, hair and eyes. It may also affect your vision, or how you see the world around you.

Skin

People with albinism often have very pale skin. But your exact skin tone may be lighter or darker depending on the type of albinism you have and how much melanin your body produces.

For example, if you have ocular albinism (OA), your skin tone may be affected very little or not at all. It may resemble that of your biological parents and siblings or look just a little bit lighter.

With oculocutaneous albinism (OCA), your skin tone depends on the specific form of the condition. Here are a few examples:

• Type 1 OCA: Very pale skin.
• Types 2 and 4 OCA: Creamy white skin.
• Type 3 OCA: Reddish-brown skin. In general, most people with albinism have a low amount of melanin in their skin (hypopigmentation). This means you’ll get sunburnt more quickly than others when outdoors, and you’re at a higher risk of developing skin cancer.

Hair

Hair color also varies by albinism type. People with OCA type 1 often have white hair, while those with other types may have hair that’s light yellow, blond, light brown or red. It all depends on how much melanin your body produces. The less melanin you have, the lighter your hair will be.

Eyes

Many people have blue eyes (often very pale). Others have hazel or brown eyes. But albinism doesn’t just affect eye color. It also affects how your eyes develop and function.

People with albinism can experience a wide range of eye-related signs and symptoms, including:

• Blurry or distorted vision.
• Refractive errors.
• Reduced depth perception.
• Crossed eyes (strabismus).
• Rapid eye movements (nystagmus).
• Light sensitivity (photophobia).

What causes albinism?

Variations in the genes responsible for melanin production cause albinism. Specific genes associated with oculocutaneous albinism include:

• TYR.
• OCA2.
• TYRP1.
• SLC45A2.

Variations in the GPR143 gene are associated with ocular albinism.

Some people with albinism don’t have variations in any of these genes. In these cases, the exact genetic cause is unknown.

Is albinism genetic?

Yes, albinism is passed down (inherited) through families.

Oculocutaneous albinism (OCA) follows an autosomal recessive pattern of inheritance. This means you must inherit an albinism gene from both of your biological parents to develop the condition yourself.

If just one of your parents has an albinism gene, you won’t be born with OCA. But you’ll have a 50% chance of being a carrier of the gene. If you’re a carrier, that means you have one albinism gene but don’t show any signs or symptoms of the condition. If you have a baby with a person who’s also a carrier, your baby will have a 25% chance of being born with OCA.

Ocular albinism (OA) usually follows an X-linked pattern of inheritance. This means the genetic variation is passed through the X chromosome. OA mostly occurs in men and people assigned male at birth.

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.

How is albinism diagnosed?

To diagnose albinism, healthcare providers typically do:

• A physical exam.
• A thorough eye exam.
• DNA testing to determine the specific type of albinism.

Healthcare providers often diagnose albinism in babies and children. Typical features, like pale hair and skin, may be obvious at birth or soon after.

What is the treatment for albinism?

There currently isn’t a treatment or cure for albinism itself (in other words, something that will make your body produce more melanin). But there’s a lot you can do to manage the condition in yourself or your child.

When you have albinism, you’re at a higher risk of developing sunburn and more serious conditions like skin cancer. So, it’s essential to limit sun exposure and check for signs of skin changes. Here are some tips:

• Spend time outdoors when the sun isn’t as strong. Generally, avoid the afternoon sun.
• Wear sunglasses, hats and sun-protective clothing.
• Apply sunscreen regularly and don’t forget to reapply. Ask your healthcare provider the appropriate SPF level for you.
• Check your skin for any signs of changes. These might include new moles or moles that change in color, size or shape. Tell a healthcare provider anything you notice, even if you think it’s minor. The earlier skin cancer is diagnosed, the better your chances of successful treatment.

Besides affecting your skin, albinism may also affect your vision. Eye care specialists, like ophthalmologists, can recommend appropriate treatment. This may involve:

• Using low vision aids, like magnifying lenses or telescopic lenses, to help you see things more clearly.
• Getting prescription eyeglasses or contact lenses to help correct refractive errors (like nearsightedness or farsightedness).
• Having surgery to correct crossed eyes (strabismus).

Often, some small tweaks — like changing where you sit in relation to a lamp or sunny window — can make a big difference. Your provider may make some suggestions for your home or workplace, or for your child’s school.

Can albinism be prevented?

Because albinism is inherited, there’s no way to prevent it. But if you have a family history of albinism and are planning to have children, you might want to consider genetic counseling.

What is the outlook for albinism?

Albinism is a lifelong condition, but it’s manageable and typically doesn’t affect a person’s lifespan. If you have a genetic syndrome, your outlook depends on the other medical conditions you have and how they affect your body. Your healthcare provider can tell you more about what to expect in your unique situation.

How can I support my child?

If your child has albinism, you might wonder how best to support them. Every child is different, and albinism doesn’t affect all kids in the same ways. Here’s some general guidance:

• Work with your child’s teachers to support their learning needs.
• Make sunscreen use a daily habit for your entire family.
• Talk to your child about their social lives — including their online interactions — and remind them they can tell you anything. Children with albinism may face bullying or discrimination, and they may not want to tell you (or know how). Knowing the signs of bullying can help you spot issues and seek help.

When should I see my healthcare provider?

Your healthcare providers will tell you how often you should come in for appointments. Be sure to follow the schedule they provide.

Call a provider if:

• Your vision seems poorer or less clear than usual.
• You have any new or changing eye-related symptoms.
• You notice any skin changes.