Albinism
From Wikipedia, the free encyclopedia
| Albinism Classification and external resources |
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| Girl from Honduras with probable OCA1a-type albinism. | |
| ICD-10 | E70.3 |
| ICD-9 | 270.2 |
| OMIM | 203100 103470, 203200, 203280, 203290, 203300, 203310, 256710, 278400, 214450, 214500, 220900, 300500, 300600, 300650, 300700, 600501, 604228, 606574, 606952, 607624, 609227 |
| DiseasesDB | 318 |
| MedlinePlus | 001479 |
| eMedicine | derm/12 |
| MeSH | D000417 |
Albinism (from Latin albus, "white"; see extended etymology) is a form of hypopigmentary congenital disorder, characterized by a partial (in hypomelanism, also known as hypomelanosis) or total (amelanism or amelanosis) lack of melanin pigment in the eyes, skin and hair (or more rarely the eyes alone). Albinism results from inheritance of recessive alleles. The condition is known to affect mammals (including humans), fish, birds, reptiles, and amphibians. While the most common term for an organism affected by albinism is "albino" (noun and adjective), the word is sometimes used in derogatory ways towards people; more neutral terms are "albinistic" (adjective) and "person with albinism" (noun). Additional clinical adjectives sometimes used to refer to animals are "albinoid" and "albinic".
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[edit] Types of human albinism
Albinism is hereditary; it is not an infectious disease and cannot be transmitted through contact, blood transfusions, or other vectors. The principal gene which results in albinism prevents the body from making the usual amounts of the pigment melanin. Most forms of albinism are the result of the biological inheritance of genetically recessive alleles (genes) passed from both parents of an individual, though some rare forms are inherited from only one parent. There are other genetic mutations which are proven to be associated with albinism. All alterations, however, lead to changes in melanin production in the body.[1][2]
Albinism was formerly categorized as tyrosinase-positive or -negative. In cases of tyrosinase-positive albinism, the enzyme tyrosinase is present. The melanocytes (pigment cells) are unable to produce melanin for any one of a variety of reasons that do not directly involve the tyrosinase enzyme. In tyrosinase-negative cases, either the tyrosinase enzyme is not produced or a nonfunctional version is produced. This classification has been rendered obsolete by recent research.[3]
The chance of offspring with albinism resulting from the pairing of an organism with albinism and one without albinism is low, as discussed in more detail below. However, because organisms can be carriers of genes for albinism without exhibiting any traits, albinistic offspring can be produced by two non-albinistic parents. Albinism usually occurs with equal frequency in both genders.[1] An exception to this is ocular albinism, because it is passed on to offspring through X-linked inheritance. Thus, males more frequently have ocular albinism.[3]
Because organisms with albinism have skin that lacks (sufficiently or entirely) the dark pigment melanin, which helps protect the skin from ultraviolet radiation coming from the sun, they can sunburn easily from overexposure. (See human skin color for more information). Lack of melanin in the eye also results in problems with vision, related and unrelated to photosensitivity, which are discussed further below.
Most humans and many animals with albinism appear white or very pale; the multiple types of melanin pigment are responsible for brown, black, gray, and some yellow colorations. In some animals, especially albinistic birds and reptiles, ruddy and yellow hues or other colors may be present on the entire body or in patches (as is common among pigeons), due to the presence of other pigments unaffected by albinism such as porphyrins, pteridines and psittacins, as well as carotenoid pigments derived from the diet. Some animals are white or pale due to chromatophore (pigment cell) defects, do not lack melanin production, and have normal eyes; they are referred to as leucistic. The direct opposite of albinism, an unusually high level of melanin pigmentation (and sometimes absence of other types of pigment in species that have more than one), is known as melanism, and results in an appearance darker than non-melanistic specimens from the same genepool.[4] Albinism-like conditions may affect other pigments or pigment-production mechanisms in some animals (e.g. "whiteface", a lack of psittacins that can affect some parrot species.).[5] Another is common in reptiles and amphibians: axanthism, in which xanthophore metabolism, instead of synthesis of melanin, is affected, resuling in reduction or absence of red and yellow pteridine pigments.[6] Of all these conditions, only albinism and melanism affect humans.
The eyes of an animal with albinism occasionally appear red due to the underlying retinal 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, often colouring the iris pale blue. However, there are cases in which the eyes of an albinistic person appear red or purple, depending on the amount of pigment present. The albinistic are generally (but see related disorders below) as healthy as the rest of their species, with growth and development occurring as normal, and albinism by itself does not cause mortality[1] (though the lack of pigment is an elevated risk for skin cancer and other problems.) Many animals with albinism lack their protective camouflage and are unable to conceal themselves from their predators or prey; the survival rate of animals with albinism in the wild is usually quite low. [7] [8] However the novelty of albino animals has occasionally led to their protection by groups such as the Albino Squirrel Preservation Society.
Intentionally-bred albinistic strains of some animal species are commonly used as model organisms in biomedical study and experimentation. Examples include the BALB/c mouse and Wistar and Sprague Dawley rat strains, while albino rabbits were historically used for Draize toxicity testing. [9] Albino axolotls, zebrafish, medaka and frogs are other common laboratory animals. The yellow mutation in fruit flies is their version of albinism.
The incidence of albinism can be artificially increased in fish by exposing the eggs to heavy metals.[10]
About 1 in 17,000 human beings has some type of albinism, although up to 1 in 70 is a carrier of albinism genes.[11]
[edit] Classification
There are two main categories of albinism in humans:
- In oculocutaneous albinism (despite its Latin-derived name meaning "eye-and-skin" albinism), pigment is lacking in the eyes, skin and hair. (The equivalent mutation in non-humans also results in lack of melanin in the fur, scales or feathers.)
- In ocular albinism, only the eyes lack pigment. People with oculocutaneous albinism can have anywhere from no pigment at all to almost-normal levels. People who have ocular albinism have generally normal skin and hair color, and many even have a normal eye appearance.
Other conditions include albinism as part of their presentation. These include Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, Waardenburg syndrome, and Tietz syndrome. These conditions are sometimes classified with albinism. [12]
[edit] Symptoms and conditions associated with albinism
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Genetic testing can confirm albinism and what variety it is, but offers no medical benefits except in the cases of non-OCA disorders (see below) that cause albinism along with other medical problems which may be treatable. The symptoms of albinism can be treated by various methods detailed below.
Eye conditions common in albinism may include:
- Nystagmus, irregular rapid movement of the eyes back and forth, or in circular motion.
- Strabismus, eye misalignment ("crossed eyes" or "lazy eye").
- Refractive errors such as myopia or hyperopia and especially astigmatism are more likely[13]
- Photophobia, hypersensitivity to bright light and glare.
- Foveal hypoplasia, underdevelopment of the fovea, the center of the retina
- Optic nerve hypoplasia, underdevelopment of the optic nerve
- Abnormal decussation (crossing) of the optic nerve fibers in the optic chiasm[14]
- Amblyopia, decrease in acuity of one or both eyes due to poor transmission to the brain, often due to other conditions such as strabismus.
Organisms with albinism usually have impaired vision due to one or more of the listed conditions. While a person with albinism may suffer from common refractive errors like nearsightedness or farsightedness, the visual problems particularly associated with albinism arise from a poorly-developed retinal pigment epithelium (RPE) due to the lack of melanin[citation needed]. This degenerate RPE causes foveal hypoplasia (a failure in the development of normal foveae), which results in eccentric fixation and lower visual acuity, and often a minor level of strabismus. Nystagmus is usually seen, as is photophobia or light sensitivity (see below).
The iris is a sphincter with pigmented tissue (which makes up the color of the eyes) that contracts to limit the amount of light that can enter through the pupil and relaxes again to allow for better vision in darkness. This mechanism can be observed in humans and mammals (like in cat's eyes) and is needed because too much light is uncomfortable or even painful and decreases vision. In people with albinism, the iris does not have enough pigment to block the light, thus the decrease of pupil diameter is only partially successful in reducing the amount of light that enters the eye.[citation needed]. Additionally, the improper development of the RPE, which in normal eyes absorbs most of the reflected sunlight, further increases glare due to light scattering within the eye.[14] The resulting sensitivity (photophobia) generally leads to a dislike of and discomfort in bright light, but does not prevent people with albinism enjoying the outdoors, especially when using sunglasses and/or brimmed hats.[3]
The lack of pigment also makes the skin unusually sensitive to sunlight and thus susceptible to sunburn, so people with albinism should either avoid prolonged exposure to bright sunlight or protect their skin.
[edit] Treatment of the symptoms
Albinism is a condition that cannot be "cured" per se, but small things can be done to improve the quality of life for those affected. Most importantly to improve vision, protect the eyes from bright lights, and avoid skin damage from sunlight. The extent and success rate of these measures depend on the type of albinism and severity of the symptoms; in particular, people with ocular albinism are likely to have normally-pigmented skin, and thus do not need to take special precautions against skin damage.
[edit] Surgical treatment
For the most part, treatment of the eye conditions consists of visual rehabilitation.[citation needed] Surgery is possible on the ocular muscles to decrease nystagmus, strabismus and common refractive errors like astigmatism. Strabismus surgery may improve the appearance of the eyes.[citation needed] Nystagmus-damping surgery can also be performed, to reduce the "shaking" of the eyes back and forth.[15] The effectiveness of all these procedures varies greatly and depends on individual circumstances. More importantly, since surgery will not restore a normal RPE or foveae, surgery will not provide fine binocular vision.[citation needed] In the case of esotropia (the "crossed eyes" form of strabismus), surgery may help vision by expanding the visual field (the area that the eyes can see while looking at one point).[citation needed]
[edit] Vision aids
Glasses and other vision aids, large-print materials and closed captioning, as well as bright but angled reading lights, can help individuals with albinism, even though their vision cannot be corrected completely. Some albinistic people do well using bifocals (with a strong reading lens), prescription reading glasses, and/or hand-held devices such as magnifiers or monoculars.[3] Contact lenses may be colored to block light transmission through the iris. 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 US states allow the use of bioptic telescopes for driving motor vehicles. (See also NOAH bulletin "Low Vision Aids".)
Although still disputed among the experts,[who?] many ophthalmologists recommend the use of glasses from early childhood onward to allow the eyes the best development possible.
Optometrists or ophthalmologists who are experienced in working with low vision patients can recommend various optical aids. Some low-vision clinics provide these aids on trial loan, with instruction in their use.
[edit] Sun protection
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 regions with high exposure to sunlight, as in Africa.
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[citation needed] and not point towards the usual position of a person with albinism (like their seat at a table).[citation needed]
[edit] Misconceptions
While some of the very rare albinism disorders that are coupled with deafness and immunodeficiency appear to be linked with inbreeding,[2] the vast majority of sufferers of common albinism are not the product of such unions; the more usual albinism genes are widespread enough that they can easily produce albinistic offspring from parents that are not related.
A common misconception is that albinistic individuals of a species are sterile; they are in fact fully capable of reproducing. It is also thought by many that people with albinism live short life spans. This is not true in general, 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. (Some very rare variants of albinism are lethal by adulthood or sooner, but they are so little-known by the general public that they are unlikely to have contributed to this belief.)
It has also been misunderstood that a person or other animal with albinism will become blind halfway through life; this is incorrect.
[edit] Culture
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Zāl (Persian: زال) an Iranian Knight, who is perhaps the most famous Iranian with albinism. He is mentioned in "The Book of Kings" or Shahnameh as a warrior of ancient Persia (current Iran). He was born with white hair, therefore, his parents called him Zāl. In Persian (Farsi) Zaall refers to those who suffer from albinism. Zāl was the son of Sām and the grandson of Nariman, both heroes of ancient Iran and protectors of Motherland Iran or "Iran-zamin." Because of his defect, Zāl was rejected by his father. He was left when only an infant; upon Mountain Damavand, which has the highest geographic peak in Iran. The mythical Simurgh (a very large and wise bird which darkens the sky when flying - has been said that Phoenix in Western literature is a replication of this bird) found the baby and took him to her nest, where Zāl lived until being reunited with his family. Soon after rejoining his family, Zāl married Rudaba; their child was the greatest Iranian hero, Rostam. The mighty and wise Simurgh gave Zāl three feathers to burn when in trouble. She would appear as soon as the feathers were lit.
While on the physical side, humans with albinism commonly have vision problems and need sun protection, they also face a social challenge, as the condition is often a source of ridicule, discrimination or even fear.[citation needed] Due to albinism's effect on one's outward appearance, cultures around the world have developed many superstitions regarding people with albinism, who are believed by some to have magical powers or to be able to tell the future,[citation needed] a common theme in fiction as well (see Albinism in popular culture for examples). For example, in Zimbabwe, modern folklore posits that sexual intercourse with an albinistic person will cure one of HIV, leading to the rape (and subsequent HIV infection) of women with albinism in that region.[16] In Tanzania in 2008, President Kikwete publicly condemned witchdoctors for killing albinos for their body parts which are thought to bring good luck. 19 albinos had been murdered between March 2007 and April 2008[17]. In Jamaica, people with albinism were historically degraded, and regarded as "cursed".[citation needed] A long-standing American urban legend is that of alleged "albino colonies" in rural New Jersey.
Portrayals of people with albinism in literature and films are rarely positive. This fact is sometimes referred to as the "evil albino" stereotype, or albino bias. While this stereotype is common, in recent years a few more positive roles have also been cast for mock-albino actors and occasionally genuinely albinistic ones.
A number of real people with albinism have become famous, including historical figures such as Emperor Seinei of Japan, and Oxford don William Archibald Spooner; actor/comedian Victor Varnado; musicians such as Johnny and Edgar Winter, Winston "King Yellowman" Foster, Brother Ali, and Willie "Piano Red" Perryman; even a fashion model, Connie Chiu.
There have also been some well-known albino animals, including Migaloo, a whale off the coast of Australia; Copito de Nieve (Little Snowflake in Spanish) a Barcelona Zoo gorilla; Snowdrop, a Bristol Zoo penguin; and the sperm whale Mocha Dick, the inspiration for Herman Melville's novel Moby-Dick.
[edit] See also
- Leucism, a condition similar to albinism in animals, characterized by reduced pigmentation in general
- Melanism (or melanosis), unusually dark melanin pigmentation
- Xanthochromism, unusually yellow pigmentation
- Vitiligo (or leukoderma), the patchy loss of skin pigmentation
- Albinism in popular culture
- Albinism in birds
- List of Mendelian traits in humans
- Ukerewe Island
[edit] References
- ^ a b c "Albinism", by Dr. Raymond E. Boissy, Dr. James J. Nordlund, et al., at eMedicine, 22 August 2005; retrieved 31 March 2007
- ^ a b Online Mendelian Inheritance in Man Database, at Johns Hopkins University (see also Mendelian Inheritance in Man for more information about this source).
- ^ a b c d "Facts about Albinism", by Richard King et al.
- ^ "Feather Colors: What We See" by Dr. Julie Feinstein of the American Museum of Natural History (NY), in Birder's World Magazine online archive; sourced December 2006, actual authoring/publication date unspecified.
- ^ "The Parblue Puzzle: Part 4—Common Parblue Varieties: The Cockatiel [Nymphicus hollandicus]" by Clive Hesford, The Genetics of Colour in the Budgerigar and Other Parrots, January 1998
- ^ "Amphibian Biology & Physiology: Caudata" at Amphibian Information Resource: An Educational Web Project About Amphibian Species; sourced December 2006, actual authoring/publication date unspecified.
- ^ Ilo Hiler, Albinos. Young Naturalist. The Louise Lindsey Merrick Texas Environment Series, No. 6, pp. 28-31. Texas A&M University Press, College Station (1983)
- ^ S. Dobosz, K. Kohlmann, K. Goryczko, H. Kuzminski (2000) Growth and vitality in yellow forms of rainbow trout. Journal of Applied Ichthyology 16, 117–120.
- ^ Draize, J.H., Woodard, G. & Calvery, H.O. (1944) Methods for the study of irritation and toxicity of substances applied topically to the skin and mucous membranes. J. Pharmacol. and Exp. Therapeutics. 82, 377–390.
- ^ de Brito, Marcelo F. G.; Caramaschi, Érica P.. "An albino armored catfish Schizolecis guntheri (Siluriformes: Loricariidae) from an Atlantic Forest coastal basin" (PDF). Neotropical Ichthyology 3 (1): 2005.
- ^ "Albinism" by Carol A. Turkington at answers.com
- ^ ILDS - ICD10.
- ^ "Albinism: Modern molecular diagnosis"
- ^ a b "Albinism - Review of Optometry Online"
- ^ by John Lee[clarify]
- ^ ipsnews.net[clarify]
- ^ Times
[edit] External links
[edit] Albinism in humans
[edit] Albinism support organizations
- Positive Exposure—Non-profit organization founded by photographer Rick Guidotti, "dedicated to celebrating the spirit of difference". Focuses on genetic conditions, especially albinism.
- Hermansky-Pudlak Syndrome Network (US-based)
- NOAH—National Organization for Albinism and Hypopigmentation (USA); also has an online support group
- International Albinism Center (research project based at the University of Minnesota, USA)
- Albinism Fellowship (UK and Ireland)
- AFA—Albinism Fellowship of Australia
- Albino Alliance A support group/forum for people living with albinism in Australia
- TAF—The Albino Foundation (Nigeria & USA)
- ALBA—Asociación de Ayuda a Personas con Albinismo [Aid Association to Persons with Albinism] (Spain) (Spanish)
- OLA—Organización Latinoamericana de Albinismo [Latin-American Albinism Organization] (Mexico) (Spanish)
- Albinizm.ru community site (Russian)
- Parent of a Child with Albinism Information based on a parent's personal experiences in having a child with albinism.
[edit] Other
- "The Golden Child: People of African Ancestry with Albinism"
- Portraits of people with albinism by Pieter Hugo
[edit] Albinism in animals
- Albino and white mammals and birds
- Albino frogs
- Albino tiger barb fish
- Albino catfish (Corydoras paleatus)
- Albino squirrels
- Albino redfoot tortoise (Geochelone carbonaria)
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