Albinism | ICD-10 | E70.3 | | ICD-9 | 270.2 | Albinism (from Latin albus, meaning "white") is a lack of pigmentation in the eyes, skin and hair. Albinism 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 prefer "person with albinism", because "albino" is sometimes used in a derogatory way. The gene which results in albinism prevents the body from making the usual amounts of the pigment 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. The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ...
The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ...
Latin was the language originally spoken in the region around Rome called Latium. ...
In biology, pigment is any material resulting in color in plant or animal cells which is the result of selective absorption. ...
In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ...
In biology, pigment is any material resulting in color in plant or animal cells which is the result of selective absorption. ...
Broadly, melanin is any of the polyacetylene, polyaniline, and polypyrrole blacks or their mixed copolymers. ...
Tyrosinase (Catechol Oxidase) is an enzyme that catalyses the oxidation of phenols (such as tyrosine) and is widespread in plants and animals. ...
Ribbon diagram of the enzyme TIM. TIM is catalytically perfect, meaning its conversion rate is limited, or nearly limited to its substrate diffusion rate. ...
This article or section does not cite its references or sources. ...
About 1 in 17,000 people have some type of albinism, although up to 1 in 75 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 color 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. This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ...
Broadly, melanin is any of the polyacetylene, polyaniline, and polypyrrole blacks or their mixed copolymers. ...
A section of Human Skin In zootomy and dermatology, skin is an organ of the integumentary system made up of a layer of tissues that guard underlying muscles and organs. ...
Ultraviolet (UV) light is electromagnetic radiation with a wavelength shorter than that of visible light, but longer than soft X-rays. ...
Prism splitting light Light is electromagnetic radiation with a wavelength that is visible to the eye (visible light) or, in a technical or scientific context, electromagnetic radiation of wavelengths that are studied in the field of optics. ...
The Sun is the star at the center of Earths solar system. ...
Historical data for native populations collected by R. Biasutti prior to 1940. ...
Photosensitivity is the amount to which an object reacts upon receiving photons of light. ...
There are two main categories of albinism in humans: oculocutaneous and ocular. In ocular albinism, only the eyes lack pigment. In oculocutaneous albinism, pigment is missing from the hair, eyes, and skin. People who have ocular albinism have normal skin/hair color and many have normal eye color. People with oculocutaneous albinism can have no pigment to almost normal. Some may even tan.
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.
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 Oculocutaneous albinism type 1 (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). An equivalent mutation produces the coat pattern in Siamese cats.
- The most common type of albinism is Oculocutaneous albinism type 2 (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 descent usually have a different phenotype (appearance): Yellow hair, rather white skin and blue, gray or hazel eyes.
- Oculocutaneous albinism type 3 (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 coloring. Vision usually ranges from 20/60 to 20/200. Apart from the hypopigmentation and impaired vision, people with HPS lack dense bodies in their blood platelets which are responsible for releasing clotting factors. For this reason, HPS patients bruise easily and have a hard time stopping bleeding once it begins. HPS has 7 known forms, each caused by a mutation in a different gene. HPS-1 and HPS-4 may also include pulmonary fibrosis, or scarring of lung tissue that prevents the necessary expansion and contraction during breathing. It is believed that this is due to a buildup of fatty ceroid in the lungs. Colitis, or inflammation in the large intestine, is another symptom of most types of HPS, which may causes blood in stool, diarrhea, and nausea.
- Ocular albinism (OA1) (OMIM 300500) affects only the eyes, and occurs primarily in males, as it is X-linked inherited. Nonetheless, skin color can be slightly lighter than those of the rest of the family, or "normal". The eye color can vary greatly, in which case only examination of the retina can reveal OA1.
The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
Tyrosinase (Catechol Oxidase) is an enzyme that catalyses the oxidation of phenols (such as tyrosine) and is widespread in plants and animals. ...
The Siamese is one of the first distinctly recognised breeds of Oriental cat. ...
The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
Hermansky-Pudlak Syndrome (HPS) is an inherited disease which results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin). ...
Hermansky-Pudlak Syndrome (HPS) is an inherited disease which results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin). ...
The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
Sex-linked genes are those carried on the mammalian X chromosome but not the Y chromosome. ...
Visual problems associated with albinism
Eye conditions common in albinism may include (for all will not 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 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. Nystagmus is rapid involuntary rhythmic eye movement, with the eyes moving quickly in one direction (quick phase), and then slowly in the other (slow phase). ...
Strabismus prevents bringing the gaze of both eyes to the same point in space Strabismus, also known as heterotropia, squint, crossed eye, wandering eye, or wall eyed, is a disorder in which the eyes do not point in the same direction. ...
In ophthalmology, astigmatism is a refraction error of the eye in which there is a difference in degree of refraction in different meridians. ...
The optic nerve is the nerve that transmits visual information from the retina to the brain. ...
Normal vision for a achromatopsic colour-blind person. ...
Hyperopia (or more rarely, hypermetropia), also known as farsightedness or longsightedness, is a defect of vision caused by an imperfection in the eye (often when the eyeball is too short), causing inability to focus on near objects, and in extreme cases causing a sufferer to be unable to focus on...
Human eye cross-sectional view. ...
Nystagmus is rapid involuntary rhythmic eye movement, with the eyes moving quickly in one direction (quick phase), and then slowly in the other (slow phase). ...
Strabismus prevents bringing the gaze of both eyes to the same point in space Strabismus, also known as heterotropia, squint, crossed eye, wandering eye, or wall eyed, is a disorder in which the eyes do not point in the same direction. ...
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). The human iris The iris is the grey-brown area. ...
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 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. In medicine (dermatology), there are several different types of cancer referred to under the general label of skin cancer. ...
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). Nystagmus damping surgery can also be performed, to reduce the "shaking" of the eyes back and forth.
Glasses and low-visual aids such as magnifiers, large print materials or closed captioning, 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".) A commonly-used symbol indicating that a program or movie is closed-captioned. ...
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. Optometry is the health care profession concerned with examination, diagnosis, and treatment of the eyes and related structures, and with determination and correction of vision problems using lenses and other optical aids [1]. An optometrist (Greek: optos meaning seen or visible and metria meaning measurement) is an eye care professional...
This article or section does not cite its references or sources. ...
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 generally prefer to have the light on their backs rather than face it.
Culture
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.
A common misconception is that albino individuals of a species are sterile, but albinos are fully capable of reproducing.
A myth has developed in Zimbabwe 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]. Coition of a Hemisected Man and Woman (c. ...
Human immunodeficiency virus (commonly known as HIV, and formerly known as HTLV-III and lymphadenopathy-associated virus) is a retrovirus that primarily infects vital components of the human immune system such as CD4+ T cells, macrophages and dendritic cells. ...
In Jamaica, West Indies, people with albinism have been degraded and regarded as cursed. In recent times, the albino dancehall singer Yellowman has helped to end this stereotype. To meet Wikipedias quality standards, this article or section may require cleanup. ...
Yellowman (born Winston Foster in Negril, Jamaica in 1959) is a Jamaican ragga and dancehall deejay. ...
In some cultures, people with albinism are thought to have magical powers, or are able to tell the future. Look up Magic in Wiktionary, the free dictionary The term magic is a Persian loanword into English and may refer to: Magic (paranormal) deals with the manipulation of what the practitioner believes to be genuine paranormal phenomena. ...
It is also thought by many that people with albinism live short life spans. This is not true, but 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 Image File history File links Download high resolution version (600x754, 89 KB) Snowdrop, the albino African Penguin, born at Bristol Zoo, Bristol, England. ...
Image File history File links Download high resolution version (600x754, 89 KB) Snowdrop, the albino African Penguin, born at Bristol Zoo, Bristol, England. ...
Other 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"). Located between Clifton Down and Clifton College, near the Clifton Suspension Bridge, in Bristol (southwest England) and opened in 1836, Bristol Zoo is a Victorian walled zoo covering a small area by modern standards, but with a considerable number of species represented. ...
Binomial name Spheniscus demersus (Linnaeus, 1758) The African Penguin (Spheniscus demersus), also known as the Jackass Penguin (after its donkey-like braying call), and the Blackfooted Penguin, is found on the south-western coast of Africa, living in colonies on 24 islands between Namibia and Algoa Bay, near Port Elizabeth...
Type Species Troglodytes gorilla Savage, 1847 Species Gorilla gorilla Gorilla beringei The gorilla, the largest of the primates, is a ground-dwelling herbivore that inhabits the forests of Africa. ...
Floquet de Neu (c. ...
Barcelona is the capital city of Catalonia, a nation in the Iberian Peninsula, which is part of the spanish state. ...
Binomial name Megaptera novaeangliae (Borowski, 1781) Humpback Whale range The Humpback Whale (Megaptera novaeangliae) is a mammal which belongs to the baleen whale suborder. ...
Indigenous Australians are the first inhabitants of the Australian continent and its nearby islands, continuing their presence during European settlement. ...
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. Toxicology (from the Greek words toxicon and logos) is the study of the adverse effects of chemicals on living organisms. ...
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. 2004 (MMIV) was a leap year starting on Thursday of the Gregorian calendar. ...
For other uses, see United States (disambiguation) and US (disambiguation). ...
Clifton is a city located in Passaic County, New Jersey. ...
Sodium chloride, also known as common salt, table salt, or halite, is a chemical compound with formula NaCl. ...
A vigilante is someone who takes enforcement of law or moral code into ones own hands. ...
Since the release of Dan Brown's book, The Da Vinci Code, Albinism has become quite known worldwide since one important character, Silas, is albino. Dan Brown (born June 22, 1964) is an American author of thriller fiction, best known for writing the controversial 2003 bestseller, The Da Vinci Code. ...
For the film, see The Da Vinci Code (film). ...
Famous people with albinism Victor Vernado is an African American stand up comedian who happens to be an albino born in Gary, Indiana on May 15, 1969. ...
An African American (also Afro-American, Black American, or simply black), is a member of an ethnic group in the United States whose ancestors, usually in predominant part, were indigenous to Africa. ...
Pierre Bourgault (January 23, 1934-June 15, 2003) was a Quebec politician and essayist and public speaker who advocated Quebec sovereignty. ...
In Canadian English, a Québécois (IPA: ), or in the feminine Québécoise (IPA: ), is a francophone native or resident of the province of Quebec, Canada. ...
Cano Estremera (born c. ...
Rock Music article is a good example of actual music history ! Gives credit where deserved, Not biased oriented views on music !!! This article contradicts another Wikipedia article at this link under salsa !!! http://en. ...
Lee, Hsien Loong (Simplified Chinese: æŽæ˜¾é¾™; Traditional Chinese: æŽé¡¯é¾; Pinyin: LÇ XiÇŽnlóng; born February 10, 1952) is the third Prime Minister of Singapore. ...
Stanley Kaoni is a militant leader in the Solomon Islands. ...
Amens album cover Salif Keita (born August 25, 1949) is an internationally recognized Afro-Pop singer and song writer from Mali. ...
Hermeto Pascoal is a Brazilian composer and multi-instrumentalist born in Arapiraca, countryside of Alagoas (Northeast Brazil). ...
Jazz is an original American musical art form originating around the start of the 20th century in New Orleans, rooted in Western music technique and theory, and is marked by the profound cultural contributions of African Americans. ...
Piano Red (born Willie Perryman, later recording as Dr. Feelgood & the Interns) was an American blues musician, and the first to hit the pop music charts. ...
The blues is a vocal and instrumental form of music based on a pentatonic scale and a characteristic twelve-bar chord progression. ...
William Archibald Spooner (July 22, 1844–August 29, 1930) was educated at Oswestry School and New College, Oxford, the first non-Wykehamist to be so, and became an Anglican priest and a scholar. ...
The term Anglican describes those people and churches following the religious traditions of the Church of England, especially following the Reformation. ...
Yellowman (born Winston Foster in Negril, Jamaica in 1959) is a Jamaican ragga and dancehall deejay. ...
To meet Wikipedias quality standards, this article or section may require cleanup. ...
Al beeno Al beeno (Corrie Moodie) also known as Prince Yellowman is a young Reggae dancehall deejay musician who was born in Kingston, Jamaica. ...
Edgar Winter album cover Edgar Winter (born December 28, 1946 in Beaumont, Texas) is an American musician who had significant success in the 1970s and 1980s. ...
Johnny Winter album cover Johnny Winter (born John Dawson Winter III on 23 February 1944 in Beaumont, Texas) is an American blues guitarist and singer, well known for his albinism, as well as his musical skills. ...
The blues is a vocal and instrumental form of music based on a pentatonic scale and a characteristic twelve-bar chord progression. ...
Brother Ali Brother Ali (born Ali Newman) is a Minnesota rap artist whose introspective lyrics have earned him critical acclaim. ...
Hip hop music (also referred to as rap or rap music) is a style of popular music. ...
To meet Wikipedias quality standards, this article or section may require cleanup. ...
Jean-Paul Gaultiers bread exhibit, Paris, 2004. ...
This article or section is missing references or citation of sources. ...
See also - Vitiligo (or leukoderma), the patchy loss of skin pigmentation
- Melanism (or melanosis), the condition of having too much skin pigmentation
- Hermansky-Pudlak_syndrome, a condition similar to albinism
- Leucism, a similar condition in animals, characterized by reduced pigmentation
- Evil albino, a literary archetype.
- Albino bias
Vitiligo (IPA ) or leukoderma is a skin disease that causes loss of pigment, resulting in irregular white patches of skin. ...
Melanism is an increased amount of black or nearly black pigmentation (as of skin, feathers, or hair) of an individual or kind of organism. ...
Hermansky-Pudlak Syndrome (HPS) is an inherited disease which results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin). ...
Leucism is characterized by reduced pigmentation, resulting in an individual with white or brighter patches of fur, plumage or skin than in the typical representative of the species. ...
An evil albino is a villain in fiction who is depicted as displaying several physical traits usually associated with albinism (eg. ...
Albino bias refers to the societal prejudice and discrimination against albino humans and, in particular, the negative depiction of albino people in the mass culture. ...
External links Wikisource has an original article from the 1911 Encyclopædia Britannica about: Albino
Albinism in humans: Wikipedia does not have an article with this exact name. ...
Wiktionary is a Wikimedia Foundation project intended to be a free wiki dictionary (hence: Wiktionary) (including thesaurus and lexicon) in every language. ...
Image File history File links Commons-logo. ...
The Wikimedia Commons (also called Commons or Wikicommons) is a repository of free content images, sound and other multimedia files. ...
Wikipedia does not have an article with this exact name. ...
Wikisource – The Free Library – is a Wikimedia project to build a free, wiki library of source texts, along with translations into any language and other supporting materials. ...
Encyclopædia Britannica, the 11th edition The Encyclopædia Britannica Eleventh Edition (1910–1911) is perhaps the most famous edition of the Encyclopædia Britannica. ...
Albinism in animals: William Blake (1807) William Blake (November 28, 1757–August 12, 1827) was an English poet, painter, and printmaker. ...
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