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Overview of Albinism by Cara Schneider

By at October 18, 2013 | 10:06 am | Print

Albinism is by no means new, but many of us don’t know much about it, even today when modern medicine, science and easy access to the internet make learning about it possible. Many are familiar with the term “albino” but not with the term “albinism” which suggests a lack of scientific understanding. There are many myths and misconceptions regarding albinism.When we think of albinism, or albinos, we might think of pale, white skin and red eyes, but there is much more to it.

Albinism is not a disease, but a genetic disorder. It typically requires two copies of a mutated gene, both one from the mother, and one from the father. It is a recessive trait caused by a mutation of genes or chromosomes that have the purpose of producing the proteins that interact with the production of melanin. Melanin is a scientific term for a chemical in the body that gives our skin, hair and eyes color. The darker the skin, hair or eyes, the more melanin the body contains. The lighter the skin, hair or eyes, the less melanin it contains. Albinism causes a number of things in the affected individual. The most identifiable is lack of pigmentation. The aforementioned lack of melanin causes varied complexions, hair color and eye color.

The common misconception regarding albino skin color is that it is always very white. The skin of an albino varies according to the type of albinism they have. Some types cause no melanin at all, others may just have less melanin than a person without the disorder. Some individuals have a pale, or milky white complexion. African American albinos are often born with white skin. It may stay white, or it may become light brown. Much of the outcome in this case depends on the skin color of the individual’s family. An albinos skin may never change its color, and another’s may darken with time. Lack of melanin makes skin very susceptible to sun damage, increasing the likelihood of skin cancer. Skin often freckles, and develops moles. Sunburn is a constant threat, and albinos must heavily clothed or wear sunscreen on a daily basis. Frequent skin cancer screening are another preventative measure.

Hair color also varies. This includes not just hair on the head, but all body hair, including eyebrows and eyelashes. Some have completely white hair, containing no pigment at all. Others may have white, medium or dark blonde hair. Hair may also be yellow, light brown, red or auburn. Hair color may also possess a metallic or silvery sheen.

Albinos do not always possess red eyes. The iris may be very or partially translucent and can range from blue, gray, amber, or tan. Albinism does not effect only the eye color, it also comes with vision impairment.  The lack of color in the eye can produce photophobia, which is sensitivity to light and glare. In a non-albino individual, light is filtered by the iris, and comes in primarily through the pupil. In an albino, the light comes in through both the iris and the pupil. Sunglasses and hats are a common solution. Vision impairment, not pigmentation, is the primary diagnostic factor. All albinos experience some type of vision impairment. Myopia (near-sightedness), hyperopia (farsightedness) and astigmatism are common. The use of glasses or contacts will correct this as it would in any other person, however sometimes impairment is much more severe. Some have low vision or are legally blind. Optical Nerve Misrouting is a result of albinism, meaning that the nerve signals don’t follow the typical pathways. Strabismus, or muscle imbalances, may also occur, resulting in crossed eyes, “lazy” eyes or an eye that deviates out. Surgery can fix the cosmetics of strabismus but cannot fix Optical Nerve Misrouting. Individuals can combat more severe problems with large text, magnifiers, or bioptics, which are glasses with attached telescopes.

Albinos face more difficulty than the average person regarding both their health and social aspects. Albino children often have special needs in school because of their vision. Some cannot drive, making independent living difficult. The physical differences of an albino often attract attention. They may experience ridicule and staring, making people with this disorder feel like outsiders. Historically, and sadly even in modern times, there are many prejudices and false beliefs. Some held, or still hold, the belief that albinos are soulless, deviant, inferior, mentally retarded, contagious or magical.  As a result, many albinos are raped because of a belief that sex with an albino can cure HIV. Albinos in Tanzania today have been slaughtered and dismembered because of the belief that their bodies hold some kind of magic that will bring good luck and good fortune. Fully dismembered sets can sell for a fortune. Some are withheld from school based on the belief that they are mentally retarded. In developed nations, these beliefs are not held, but ignorance can still cause emotional harm. The history of myths, misconceptions and ignorance regarding this genetic disorder make knowing about it crucial.

Sources

http://www.albinism.org.uk/docs/nb_albinism_article.pdf

http://www.mayoclinic.com/health/albinism/DS00941

http://www.aapos.org/terms/conditions/12

http://www.cnn.com/2013/05/17/world/africa/josephat-torner-albinism-tanzania

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Trackbacks For This Post

  1. […] Albinism is a genetic defect that affects thousands of people each day. This defect affects all races. Unlike other deficiencies or diseases that are easily hidden, Albinism is one that is physically apparent. It is caused by an altered gene that controls the body from producing melanin in it that gives humans the pigment color. There are many types of Albinism like Hermansky-Pudlak syndrome or Ocular Albinism but the two main types of Albinism: Type 1 and type 2. Type 1 is caused by the lack of melanin within the body, while type 2 is caused by a defect in the “P” gene.  The “P” gene or oculocutaneous Albinism II (OCA2) is a gene that provides information and instructions for making a P protein. In Albinism, OCA2 becomes mutated making Albinos have white skin, light hair and vision problems. […]

  2. […] Albinism is a genetic defect that affects thousands of people each day. This defect affects all races. Unlike other deficiencies or diseases that are easily hidden, Albinism is one that is physically apparent. It is caused by an altered gene that controls the body from producing melanin in it that gives humans the pigment color. There are many types of Albinism like Hermansky-Pudlak syndrome or Ocular Albinism but the two main types of Albinism: Type 1 and type 2. Type 1 is caused by the lack of melanin within the body, while type 2 is caused by a defect in the “P” gene.  The “P” gene or oculocutaneous Albinism II (OCA2) is a gene that provides information and instructions for making a P protein. In Albinism, OCA2 becomes mutated making Albinos have white skin, light hair and vision problems. […]


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