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16-September-2008 16:15:17 - Albinism Albino redirects here. For other uses, see Albino disambiguation. Albinism Classification and external resources 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, reptiles, amphibians, and insects. 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; the term albinistic adjective can be used to avoid the risk of being interpreted thus, as can the noun person with albinism. Additional clinical adjectives sometimes used to refer to animals are albinoid and albinic. Contents 1 Types of human albinism 1.1 Classification 2 Symptoms and conditions associated with albinism 3 Treatment of the symptoms 3.1 Surgical treatment 3.2 Vision aids 3.3 Sun protection 4 Misconceptions 5 Culture 6 See also 7 References 8 External links 8.1 Albinism support organizations 8.2 Other 8.3 Albinism in animals Types of human albinism Albinism is herary; 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.12 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. An albino Wistar rat, a strain commonly used for both biomedical and basic research. An albino Wistar rat, a strain commonly used for both biomedical and basic research. 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 mortality1 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 Classification Green turtle Chelonia mydas, albino. Green turtle Chelonia mydas, albino. 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. People with oculocutaneous albinism can have anywhere from no pigment at all to almost-normal levels. In ocular albinism, only the eyes lack pigment. 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 Symptoms and conditions associated with albinism This section needs additional citations for verification. November 2007 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 likely13 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 chiasm14 Amblyopia, decrease in acuity of one or both eyes due to poor transmission to the brain, often due to other conditions such as strabismus. Albinistic girl from Papua New Guinea Albinistic girl from Papua New Guinea 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 melanincitation 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. Treatment of the symptoms Albinism is a condition that cannot be cured, 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. 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 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. 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 bluecitation needed and not point towards the usual position of a person with albinism like their seat at a table.citation needed 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. Culture Main article: Albinism in popular culture Please help improve this section by expanding it. Further information might be found on the talk page or at requests for expansion. June 2008 ZÄ?l Persian: زال was an Iranian Knight, and perhaps the most famous Iranian with albinism. He is mentioned in The Book of Kings or Shahnameh as a warrior of ancient Persia currently Iran. He was born with white hair, and therefore his parents called him ZÄ?l. In Persian Farsi Zaall refers to those who suffer from albinism. Afro-Brazilian albino pride parade during Bahia carnival Afro-Brazilian albino pride parade during Bahia carnival In physical terms, humans with albinism commonly have vision problems and need sun protection. They also face social challenges 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 also a common theme in fiction 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. 26 albinos have been murdered since March 2007.17. Witch doctors use body parts from albinos, such as hair, arms, legs and blood to make potions which they claim make people wealthy.18 Consequently, graves of albinos have to be sealed with cement to discourage grave robbers. 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.citation needed 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, Salif Keita, Winston King Yellowman Foster, Brother Ali, and Willie Piano Red Perryman; even a fashion model, Connie Chiu. Big Brother 9 UK contestant Darnell Swallow is also an albino, and spoke a lot to other housemates regarding this and he maintains that he just wants to be accepted. He even has a blue jumper with the words Don't Label Me. Respect Me. on it. There have also been some well-known albino animals, including Migaloo, a whale off the coast of Australia; Floquet de Neu Little Snowflake in Catalan a Barcelona Zoo gorilla; Snowdrop, a Bristol Zoo penguin; and the sperm whale Mocha Dick, the inspiration for Herman Melville's novel Moby-Dick. In Kuna mythology, people with albinism have been give a special place in mythology.19 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 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 AM 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 Leeclarify ^ ipsnews.netclarify ^ Tanzania albinos targeted again. Retrieved on 2008-07-27. ^ Albinos, Long Shunned, Face Threat in Tanzania, New York Times, June 8, 2008 ^ Oculocutaneous albinism: clinical, historical and anthropological aspects External links Look up Albino in Wiktionary, the free dictionary. Wikimedia Commons has media related to: Albinism Wikisource has the text of the 1911 Encyclopædia Britannica article Albino. 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. Other The Golden Child: People of African Ancestry with Albinism Portraits of people with albinism by Pieter Hugo Albino Help Center; offshoot of the Albino Association of America - located 14436 Washington Ave, Cedarburg, WI 53012 Albinism in animals Albino cobra. It retains some yellow and red pigment, because it is not also axanthic. Albino cobra. It retains some yellow and red pigment, because it is not also axanthic. An albino rat, due to its reddish colored eyes An albino rat, due to its reddish colored eyes Albino and white mammals and birds Albino frogs Albino tiger barb fish Albino catfish Corydoras paleatus Albino squirrels Albino redfoot tortoise Geochelone carbonaria v d e Inborn errors of amino acid metabolism E70-72, 270 K Lysine/straight chain Glutaric acidemia type 1 - type 2 - Hyperlysinemia - Pipecolic acidemia - Saccharopinuria Leucine Maple syrup urine disease - Isovaleric acidemia - 3-Methylcrotonyl-CoA carboxylase deficiency - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency G→pyruvate Glycine Sarcosinemia - D-Glyceric acidemia - Glutathione synthetase deficiency G→alpha-ketoglutarate Glutamate/glutamine SSADHD Proline Hyperprolinemia - Prolidase deficiency Histidine Carnosinemia - Histidinemia - Urocanic aciduria G→succinyl-CoA Methionine Hypermethioninemia - Homocystinuria - Cystathioninuria Valine Maple syrup urine disease - Hypervalinemia - Isobutyryl-CoA dehydrogenase deficiency Isoleucine Maple syrup urine disease - Beta-ketothiolase deficiency - 2-Methylbutyryl-CoA dehydrogenase deficiency General BC/OA Propionic acidemia - Methylmalonic acidemia G→fumarate Phenylalanine/tyrosine Phenylketonuria: Tetrahydrobiopterin deficiency - 6-Pyruvoyltetrahydropterin synthase deficiency Tyrosinemia: Type II tyrosinemia - Type III tyrosinemia/Hawkinsinuria - Alkaptonuria/Ochronosis - Type I tyrosinemia G→oxaloacetate Urea cycle/Hyperammonemia arginine, aspartate N-Acetylglutamate synthase deficiency - Carbamoyl phosphate synthetase I deficiency - Ornithine transcarbamylase deficiency/translocase deficiency - Citrullinemia - Argininosuccinic aciduria - Argininemia Transport Cystinuria - Hartnup disease - Oculocerebrorenal syndrome - Lysinuric protein intolerance - Inborn errors of renal tubular transport Cystinosis, Fanconi syndrome Tyrosine→Melanin Albinism: Ocular albinism - Oculocutaneous albinism Hermansky-Pudlak syndrome - Waardenburg syndrome Glycine→Creatine GAMT deficiency Other Trimethylaminuria - 2-Hydroxyglutaric aciduria - Fumarase deficiency see also Amino acid metabolism enzymes, Urea cycle enzymes, intermediates Retrieved from http://en..org/wiki/Albinism Categories: Metabolic disorders | AlbinismHidden categories: articles needing clarification | Articles needing additional references from November 2007 | All articles with statements | Articles with statements since February 2007 | Articles with specifically-marked weasel-worded phrases | Articles with statements since December 2007 | Articles to be expanded since June 2008 | All articles to be expanded | Articles with statements since April 2007 | Articles with statements since August 2008 Views Article Discussion this page History Personal tools Log in / create account Navigation Main page Contents Featured content Current events Random article Search Go Search Interaction Community portal Recent changes Contact Donate to Help Toolbox What links here Related changes Upload file Special pages Printable version Permanent link Cite this page Languages العربية Bosanski БългарÑ?ки ÄŒesky Cymraeg Dansk Deutsch Eesti Español Esperanto Français Hrvatski Italiano עברית Kurdî / كوردی LatvieÅ¡u Lietuvių Magyar Nederlands ‪Norsk bokmÃ¥l‬ Oromoo Polski Português Română РуÑ?Ñ?кий Simple English SlovenÅ¡Ä?ina СрпÑ?ки / Srpski Suomi Svenska Tagalog Тоҷикӣ Türkçe УкраїнÑ?ька اردو ä¸æ–‡ This page was last modified on 15 August 2008, at 11:35
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