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Albinism (from Latin albus, meaning "white") is a lack of pigmentation in the eyes, skin and hair. It is an inherited condition resulting from the combination of recessive alleles passed from both parents of an individual. This condition is known to affect mammals, fish, birds, reptiles, and amphibians. While the most common term for an individual affected by albinism is "albino", some of them prefer "person with albinism", because "albino" is often used in a derogatory way. A humorous compensation for this was the invention of the word "pigmento" for a normally pigmented person. The gene which results in albinism prevents the body from making the usual amounts of a pigment called melanin. Albinism used to be categorised as Tyrosinase positive or negative. In cases of Tyrosinase positive albinism, the enzyme tyrosinase is present but is unable to enter pigment cells to produce melanin. In tyrosinase negative cases, this enzyme is not produced. This classification has been rendered obsolete by recent research.About 1 in 17,000 people have some type of albinism, although up to 1 in 70 are carriers.There are many alterations of genes which are proven to be associated with albinism. All alterations, however, lead to an alteration of the melanin (pigment/coloring) production in the body. Melanin helps protect the skin from ultraviolet light coming from the sun (see human skin colour for more information). Organisms with albinism lack this protective pigment in their skin, and can burn easily from exposure to the sun as a result. Lack of melanin in the eye also results in problems with vision unrelated to photosensitivity, which are discussed further below.There are two main categories of albinism in humans: oculocutaneous and ocular. In ocular albinism, only the eyes lack pigment. In oculocutaneous pigment is missing from the hair, eyes, and skin. People who have ocular albinism have normal skin/hair colour and many have normal eye colour. People with oculocutaneous albinism can have no pigment to almost normal. Some may even tan.
African albino brother & sister (parents in the back)
African albino brother & sister (parents in the back)
The eyes of a person with albinism occasionally appear red due to the underlying blood vessels showing through where there is not enough pigment to cover them. In humans this is rarely the case, as a human eye is quite large and thus produces enough pigment to lend opacity to the eye. However, there are cases in which the eyes appear red or purple, depending on the amount of pigment present.People with albinism are generally as healthy as the rest of their species, with growth and development occurring as normal. Many animals with albinism, however, lose their protective camouflage and are unable to conceal themselves from their predators or prey. The survivability rate of animals with albinism in the wild is usually quite low. The largest problem people with albinism face is social, as the condition is sometimes a source of teasing during adolescent years.As albinism is a recessive gene, the chance of offspring with albinism resulting from the pairing of a creature with albinism with a creature without albinism is very low and is discussed below.

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Visual problems associated with albinism
Famous people with albinism

Types of albinism
There are many types of albinism. While there is only one type of ocular albinism, there are at least five types of oculocutaneous albinism, one of which has several subtypes. Some are easily distinguished by appearance, but in most cases, genetic testing is the only way to be sure. Apart from HPS (see below) testing has no medical benefits.
  • The type with the usually least amount of pigment is OCA1 ( OMIM 203100). People with this type usually have very white skin, white hair and light blue eyes, however there are cases in which the eyes appear red or purple, depending on the amount of pigment present.. OCA1 is caused by an alteration of the tyrosinase gene, and can occur in two variations. The first is OCA1A, and means that the organism cannot develop pigment at all. Vision usually ranges from 20/200 to 20/400. The second is OCA1b, which has several subtypes itself. Many individuals with OCA1b can tan and develop pigment. One subtype of OCA1b is called OCA1b TS (Temperature Sensitive), where the tyrosinase can only function below a certain temperature, which causes the body hair in cooler body regions to develop pigment (i.e. get darker).
  • The most common type of albinism is OCA2 ( OMIM 203200), which is caused by alterations of the P-gene. People with OCA2 generally have more pigment, and better vision than those with OCA1, but cannot tan like some with OCA1b. A little pigment can develop in freckles or moles. People with OCA2 usually have fair skin but not as white as OCA1, and light to golden or reddish blonde hair, and usually blue eyes. Affected people of African decent usually have a different phenotype (appearance): Yellow hair, rather white skin and blue, gray or hazel eyes.
  • OCA3 or Rufuous (=Red) Albinism ( OMIM 203290) has only been partially researched and documented. Cases have been reported in Africa and New Guinea, affected individuals have red hair and reddish brown skin and blue or gray eyes.
  • HPS or Hermansky-Pudlak-Syndrome ( OMIM 203300) is not a type of OCA itself, but has similar features. HPS has a great range of degrees of pigmentation, from OCA1A-like to almost normal. Vision usually ranges from 20/60 to 20/200. Apart from the hypopigmentation and impaired vision, people with HPS have an abnormality in their blood platelets, which usually leads to bleeding issues and bruising easily, and people with HPS often suffer from lung fibrosis (scarring of the lung) and other sicknesses. HPS is very rare.
  • Ocular albinism (OA1) ( OMIM 300500) affects only the eyes, and occurs primarily in males, as it is X-linked inherited. Nonetheless, skin colour can be slightly lighter than those of the rest of the family, or "normal". The eye colour can vary greatly, in which case only examination of the retina can reveal OA1.

Visual problems associated with albinism - Contents

Eye conditions common in albinism include (not all will necessarily be present)
  • Nystagmus, irregular rapid movement of the eyes back and forth.
  • Strabismus, muscle imbalance of the eyes ("crossed eyes" or "lazy eye")
  • Sensitivity to bright light and glare.
  • Far- or Near-sightedness
  • Astigmatism (distortion of a viewed image, usually either horizontally or vertically)
  • Abnormal routing of the optic nerve to the brain
People with albinism always suffer from impaired vision, but the degree varies greatly. While a person with albinism may suffer from a standard eye affliction like near-sightedness or far-sightedness, the biggest problem arises from a poorly-developed retina and abnormal nerve connections between the eyes and brain. These abnormalities define albinism, medically. While the effects of this condition are difficult to describe, it can be explained as seeing at a lower resolution. Additionally, most people with albinism suffer from nystagmus (a rapid, involuntary "shaking" of the eyes) which further reduces vision. People with albinism are also likely to have astigmatism or strabismus.The iris, the colored area in the center of the eye, does not have enough pigment to screen out stray light coming into the eye. Light normally enters the eye only through the pupil, the dark opening in the center of the iris, but in albinism light can pass through the iris as well. Such sensitivity generally leads to a dislike of bright lights, but does not prevent people with albinism enjoying the outdoors, especially when using sunglasses and/or hats. They should avoid prolonged exposure to bright sunlight regardless, as their skin is particularly susceptible to sunburn (see below).

Sun Protection and Vision Aids
Albinism is a condition that cannot be "cured" or "treated" per se, but small things can be done to improve the quality of life for those affected. It is vital that people with albinism use sunscreen when exposed to sunlight to prevent premature skin aging or skin cancer. This poses a big problem for those who cannot afford sunscreen, especially in countries with high exposure to sunlight, as in Africa. Special UV-proof clothing and swimsuits are available and are a good alternative to excessive use of sunscreen.For the most part, treatment of the eye conditions consists of visual rehabilitation. Surgery to correct strabismus may improve the appearance of the eyes. However, since surgery will not correct the misrouting of nerves from the eyes to the brain, surgery will not provide fine binocular vision. In the case of esotropia or "crossed eyes," surgery may help vision by expanding the visual field (the area that the eyes can see while looking at one point).Glasses and low-visual aids such as magnifiers, large print materials or CCTVs ( closed-circuit television), as well as bright but angled reading lights can help individuals with albinism, even if their vision cannot be corrected completely. Some people do well using bifocals which have a strong reading lens, prescription reading glasses, or contact lenses. Others use hand-held magnifiers or special small telescopes. Some use bioptics, glasses which have small telescopes mounted on, in, or behind their regular lenses, so that they can look through either the regular lens or the telescope. Newer designs of bioptics use smaller light-weight lenses. Some states allow the use of bioptic telescopes for driving. (See also NOAH bulletin "Low Vision Aids.)Although still disputed among the experts, many ophthalmologists recommend the use of glasses from early childhood on to allow the eyes the best development possible. Surgery is possible on the ocular muscles to decrease nystagmus, strabismus and common refractive errors, but especially with nystagmus surgery the effectiveness varies greatly and depends on individual circumstances. Optometrists or ophthalmologists who are experienced in working with low vision patients can recommend various optical aids. Clinics should provide aids on trial loan, and provide instruction in their use. The American Foundation for the Blind (1-800-AFB-LIND) maintains a directory of low vision clinics.Use of sunglasses and hats with wide brims can make the glare outside bearable. Other things that can help people with albinism are avoiding sudden changes of the lighting situation (switching the light on in complete darkness), using dimmable switches and adding tint to car windows or blinds to normal windows. Lights should be yellowish rather than blue and not point towards the usual position of a person with albinism (like their seat at a table). When possible, people with albinism prefer to have the light on their backs rather than face it.

Culture - Contents

Myths and Superstitions
Due to albinism's effect on one's outward appearance, cultures around the world have developed many myths and superstitions regarding people with albinism.Zimbabwe has developed a myth that having sex with a woman with albinism will cure a man of HIV. This has led to many women with albinism in the area being raped [1].In Jamaica, West Indies, people with albinism have been degraded and regarded as cursed. In recent times, the affected dancehall singer Yellowman has helped to end this stereotype.In some cultures, people with albinism are thought to have magical powers or are able to tell the future.It is also thought by many that people with albinism live short life spans. This is not true, and may be a distorted view of a more reasonable fact that people with albinism have a higher risk of skin cancer if they do not use proper skin protection when in the sun.
Snowdrop, an albino African Penguin, born at Bristol Zoo (England), died in August 2004. Snowdrop would normally have looked like the background penguins
Snowdrop, an albino African Penguin, born at Bristol Zoo (England), died in August 2004. Snowdrop would normally have looked like the background penguins

Bristol Zoo was the home to a very rare albino African penguin named Snowdrop. Snowdrop was hatched at the zoo in October 2002 and died in August 2004. For many years, a unique albino gorilla named Floquet de Neu (Snowflake) was the most famous resident of the Parc Zoològic de Barcelona. An albino humpback whale travels up and down the east coast of Australia, and has become famous in the local media. The whale is called Migaloo (the Aboriginal word for "white lad").Medical science and toxicology can take advantage of the standardized lack of pigment in albino animals in testing for materials' chemical properties. An example of such a test is the test for corrosiveness, which is a skin exposure test performed on albino rabbits.The 2004 book Weird U.S. chronicled (and further popularized) one of the lesser known "local myths" of the country, Albino Colonies. The book uses firsthand accounts mailed to the authors to paint a picture of various locations in the U.S. (most notably Clifton, New Jersey) where colonies of albino families and neighbors live in seclusion. The accounts tell tales of honking horns to try to bring the albinos out of their houses, being shot at with rock salt by albinos, and even vigilantism by gangs of albinos.

Famous people with albinism - Contents

  • Pierre Bourgault: Québécois politician
  • Cano Estremera: Puerto Rican salsa musician
  • Li Yipeng, Lee Hsien Loong's son
  • Stanley Kaoni: Solomon Islander militant leader
  • Salif Keita: Malian popular musician
  • Hermeto Pascoal: Brazilian jazz musician
  • Piano Red: American blues musician
  • Nestor Sánchez: Cuban singer
  • William Archibald Spooner: Anglican priest
  • Yellowman: Jamaican dancehall musician
  • Al beeno: Jamaican dancehall musician
  • Edgar Winter: American rock musician
  • Johnny Winter: American blues musician
  • Tony Evans: American newspaper columnist
  • Brother Ali : American hip hop MC
  • Connie Chiu : Photo model for Jean-Paul Gaultier

Publications - Contents

  • Albino Animals by Kelly Milner Halls. Darby Creek Publishing (March, 2004) ISBN 1581960123
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