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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
Read more below to find out more about the condition.
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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
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.
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.
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 albinism||Possibility that offspring will carry at least one copy of an albinism gene|
|Two parents with albinism||100%*||100%|
|One albino parent, one carrier parent||50%||100%|
|Both parents carry the albinism-causing gene||25%||75%|
|One carrier parent, one non-carrier parent||0%||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.
Unfortunately, there is no accurate test for albinism. Most diagnoses are made at childbirth by a healthcare professional. 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.
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.
Albinism also does not only come in one type. Many different genes can cause it.
This is the most common and easily 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.
Also known as X-linked ocular albinism, it is much less common than OCA. It primarily causes the following:
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.
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.
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.
Outside of the United States, albinism is also prevalent and causes social stigma.
In Zimbabwe, a study of over a million schoolchildren shows that the prevalence of OCA among locals is 1 in 4728.6 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 1400 people. There, people with albinism are ostracized or even hunted. Local superstitions incorrectly believe that albino body parts have magical properties.8
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 the intelligence of a person.
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.
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 the melanin pigments to show up as black growths. With albinism, their pink or complete absence of color may be overlooked.
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.
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.
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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