What Causes Albinism?
Updated on March 18, 2024
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What Causes Albinism?

Key Takeaways

What Causes Albinism? 1

Albinism is often caused by mutations or defects in the genes that control melanin production and distribution. These defects cause a heavily reduced amount of melanin or even the total absence of it.

Albinism is a genetic condition wherein the body produces little or no melanin. Melanin affects the skin, hair, and eyes, particularly their color. People with albinism are mostly recognized through their very pale skin and white hair.1 

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What is Albinism?

Albinism, or oculocutaneous albinism, is not a contagious disease but a genetic disorder. It occurs when certain genes that control melanin production in the body are changed from parent to offspring.1

The term “oculocutaneous” means that it affects both the eyes (“oculo”) and the skin (“cutaneous”). Ocular albinism may primarily affect the eyes instead of the skin. In either case, the condition is marked by pale white skin color and hair color as well as light blue to very light blue eyes.

Having the condition may put you at risk for developing skin cancer. You may also face social stigma for having different skin and hair color.

Melanin also affects vision, so people with albinism may have vision problems.1

The Genetic Basis of Albinism

How is Albinism Inherited?

Albinism occurs in roughly 1 out of 20,000 Americans.1

Several human genes affect the production of melanin. These genes contain instructions for building the proteins necessary for producing melanin. When these genes are passed from parent to child, the child may be born with albinism.

What Causes Albinism? 2

Note: Even without albinism, melanin levels can vary from family to family. This accounts for the difference in skin and hair color across populations. For example, people of African or Asian descent naturally produce more melanin.  They are more likely to have darker skin tones than Europeans.

Albinism is a disorder in which, regardless of race, a person’s melanin synthesis is not at normal levels. The affected or abnormal genes may already be present in one or both parents. When inherited by their offspring, albinism may occur.

How Can Albinism Come From Parents Without Albinism?

The genes related to albinism are recessive genes. This means that for a person to develop albinism, they must inherit the abnormal gene from both their biological mother and father. This is because all genes are paired—one received from each parent.

A person could have an albinism-causing gene from one parent but a normal version of the gene from the other parent. That person will not develop albinism but has a chance to pass on the abnormal gene to their child.1

If a person inherits the albinism-causing gene from both parents, then that person will likely develop the condition. This is called an autosomal recessive inheritance pattern for albinism. This means a person needs two copies of the disorder-causing gene (one copy from each parent).

Possibility that offspring will have albinismPossibility that offspring will carry at least one copy of an albinism gene
Two parents with albinism100%*100%
One albino parent, one carrier parent50%100%
Both parents carry the albinism-causing gene25%75%
One carrier parent, one non-carrier parent0%50%

Note: It’s possible for both parents to have albinism and still have a child without it if their types of albinism are different. If the parents have different types of albinism, then it is likely that their child will NOT have albinism but will be a carrier for both types they inherited.

Can Albinism-Causing Genes Be Detected?

Unfortunately, there is no accurate test for albinism. Most diagnoses are made at childbirth by a healthcare professional or genetic counselor. They note down any abnormal skin pigmentation in the infant.

Genetic testing and sequencing can also be done for children as early as the fetal stage, but this process is usually better reserved for families that already have albinism in their gene pool. This is because the process can cost anything from $100 to $1,000,000 and cannot confirm if a child does NOT have albinism.3 

Predicting albinism instead is done by checking both parents’ lineage.

If, at any point in their family tree, there is a direct parent or grandparent with albinism, then that person may have the gene that causes albinism.

What Causes Albinism? 4

Because it is possible to carry the abnormal gene without developing albinism oneself, it is difficult to track exactly who among other family members might have the recessive gene.

The more generations in between a child and an albino ancestor, however, decreases the likelihood that they are carrying the gene.

What Are the Different Types of Albinism?

There are many forms of albinism and even rarer conditions connected to it:

Type of AlbinismKey FeaturesInheritance PatternAdditional Conditions
Oculocutaneous Albinism (OCA)Reduced pigmentation in skin, hair, and eyes; visual problemsAutosomal recessive (OCA1 to OCA8)None
Ocular Albinism (X-linked)Primarily affects eyes (light color, visual problems, nystagmus)X-linked recessiveNone
Hermansky-Pudlak SyndromeType of OCA with bleeding disorders and lung problemsAutosomal recessiveIncreased risk of pulmonary fibrosis
Chediak-Higashi SyndromeType of OCA with immune system problemsAutosomal recessiveHigh risk of infections, accelerated phase can be fatal

What are the Common Types of Albinism?

Albinism also does not only come in one type. Many different genes can cause it. 

Oculocutaneous albinism (OCA)

This is the most common form and easily the most recognized type. It results in a lack of pigmentation in the skin, hair, and eyes and can result in decreased visual acuity.

There are eight (8) recessive genes that cause oculocutaneous albinism. These genes are noted as OCA1, OCA2, and so on until OCA8.

This is also the type of albinism that is transmitted through autosomal recessive inheritance. All eight varieties of OCA count as an autosomal recessive disorder. OCA2 may result in reddish hair instead of pale white.

Ocular albinism 

Also known as X-linked ocular albinism, it is much less common than OCA. It primarily causes the following:

  • Light-colored eyes
  • Decreased visual acuity through damaged optic nerve fibers
  • Congenital nystagmus
  • Other reduced ocular features

It is transmitted through X-linked recessive inheritance. This means the offending gene is linked to the X chromosome. As such, only biological males develop ocular albinism, though both the mother and father can carry the gene.

Both oculocutaneous albinism and x-linked ocular albinism share many of the same symptoms and complications.

What Are Rare Syndromes Associated with Albinism?

Certain forms of albinism can cause other conditions or syndromes.

Apart from oculocutaneous and ocular albinism, there are also rare syndromes that manifest a rare form of albinism alongside other symptoms caused by abnormal genetic mutation.

  • Hermansky-Pudlak syndrome is a specific condition that includes OCA alongside other symptoms. People with Hermansky-Pudlak syndrome may also develop pulmonary fibrosis and bleeding disorders.4
  • Chediak-Higashi syndrome is another condition that includes OCA as well as an immunodeficiency disorder. Chediak-Higashi syndrome can enter an accelerated phase where white blood cells divide rapidly and cause severe symptoms. It has a high mortality rate in children but is also an extremely rare genetic condition.5

Both Hermansky-Pudlak syndrome and Chediak-Higashi syndrome are rare types of albinism that affect platelets and white blood cells. They both have a high mortality rate due to complications and recurrent infections.

What Causes Albinism? 5

Does Albinism Look Different Around the World?

Yes. While the lack or absence of melanin is the most common link for albinism around the world, it can look different across races.

For example, albinism in Africa may be more pronounced or noticeable given how typical deep-skinned pigmentation can look compared to the absence of melanin. Features may also cause differences in appearance across races.

How Prevalent is Albinism in Africa and Other Regions?

Outside of the United States, albinism is also prevalent and causes social stigma.

In sub-Saharan Africa, specifically Zimbabwe, a study of over a million schoolchildren shows that the prevalence of OCA among locals is 1 in 4,728.6 Many people with albinism in Africa face discrimination. They are also at an increased risk for skin cancer due to direct exposure to the sun with less melanin. 

One possible reason for the high instances of albinism among those of African descent is the limited gene pool and low mobility of ethnic groups from the region.7 This means that the recessive gene could still remain prevalent in many family trees.

Tanzania in East Africa is reported to have the highest rate of albinism globally at 1 in every 1,400 people. There, people with albinism are ostracized or even hunted. Local superstitions incorrectly believe that albino body parts have magical properties.8

What are Misconceptions About Albinism?

Apart from superstition, there are also other health-related misconceptions about albinism.11

In some countries, albinism is thought to be contagious. As a genetic condition, albinism is not contagious in that it can be transmitted through exposure. It can only be inherited through an autosomal recessive or x-linked inheritance pattern from parent to child.

Albinism is also thought to be caused by lack of sunlight and can be cured through sun exposure. This is not true, and additional exposure is actually directly harmful to anyone with albinism.

Albinism also does not cause mental retardation or any other decreases in mental acuity. The disorder does not affect the brain beyond its connection to the optic nerve. Decreased melanin production should not have an impact on a person’s intelligence.

Albinism Health Implications and Care

What Health Risks are Associated with Albinism?

Albinism affects the skin, hair, and eyes beyond just affecting their color.

Melanin affects the health of the retina, the part of the eye that translates light into images.

What Causes Albinism? 6

In particular, it heavily affects the retinal pigment epithelium, a layer of the retina with a lot of melanin. The melanin in this part of the eye protects the retina from light damage but also plays a role in preventing vision problems.10

Reduced melanin production causes reduced visual acuity. This is in the form of short or long-sightedness, blurred vision, photophobia (sensitivity to bright light), or involuntary eye movements, also called nystagmus.

Note: An affected child can suffer learning difficulties due to low vision. Detecting albinism (especially ocular albinism) is important in young children who may seem clumsy or have reduced vision.

Low melanin also negatively impacts skin health. Sun exposure can more easily result in sun damage, such as sunburn, due to less melanin. Sunburns increase the risk of skin cancer.

Skin cancer may also be more difficult to detect as melanoma and other early signs of skin cancers need melanin pigments to show up as black growths. With albinism, their pink or complete absence of color may be overlooked.

How Can People with Albinism Protect Their Skin and Eyes?

People with albinism will need to correct vision problems with eyeglasses or other treatments. Laser eye surgery can also help with visual impairment.

People with albinism should also avoid being in direct sunlight for extended periods of time. A minimum of SPF 30 sunscreen should be used to avoid sunburn. Regular checkups to detect any possible signs of skin cancer may also be warranted.

Living with the albinism condition requires a substantial lifestyle adjustment. Supportive relationships can help reduce the mental burden of dealing with social stigma.

Common Questions About Albinism

How Do You Diagnose Albinism?

Signs of albinism are usually checked at birth or in infancy. This is a simple look test performed by medical professionals to check the pigmentation of a baby’s eyes or for white hair.

More precise tests can also be used. Electrodiagnostic testing is a method of checking electric nerve signals from the brain to the optic nerve to spot vision problems. Genetic testing may also be considered to confirm the presence of the OCA1 to OCA8 genes.

Tests should especially considered if there is a history of albinism in one or both parents’ families.

Is There A Cure for Albinism?

Since albinism is a genetic condition, there is currently no way to reverse its occurrence. Instead, most treatments aim to manage its symptoms and mitigate further health complications.

Aside from skin and eye sensitivities, however, albinism alone does not come with any other major impairments. People with albinism can still lead productive and enjoyable lives, especially with the support of people around them.

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Updated on March 18, 2024
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11 sources cited
Updated on March 18, 2024
  1. Albinism.” Mayo Clinic
  2. How Much Does Genetic Testing Cost for Pregnancy?” Genome Medical
  3. “Albinism Workup.” Medscape
  4. Hermansky-Pudlak syndrome.” Mayo Clinic
  5. Chediak-Higashi Syndrome.” StatPearls, National Library of Medicine (NIH)
  6. Distribution of oculocutaneous albinism in Zimbabwe.” J Med Genet, National Library of Medicine (NIH)
  7. What is Albinism?” Asante Mariamu
  8. Buried alive: Tanzania’s albinos pay the price for superstition.” ENACT Observer
  9. “Albinism.” United Kingdom National Health Service (NHS)
  10. Retinal pigment epithelium findings in patients with albinism using wide-field polarization-sensitive optical coherence tomography.” Retina, National Library of Medicine (NIH)
  11. Past and contemporary myths and misconceptions of oculocutaneous albinism in Africa.” Journal of the American Academy of Dermatology
Will Hunter
Will Hunter
Content Contributor
Will is a content writer for KnowYourDNA. He received his B.A. in Psychology from the University of California, Los Angeles. Will has 7 years of experience writing health-related content, with an emphasis on nutrition, alternative medicine, and longevity.