View source for Medicine:Albinism in humans

{{short description|Condition characterized by partial or complete absence of pigment in the skin, hair and eyes}}
{{Infobox medical condition (new)
| name            = Albinism
| image           = Albinisitic man portrait.jpg
| caption         = Young African boy with albinism
| field           = Dermatology
| synonyms        = Achromia, achromasia, achromatosis
| pronounce       = albino ({{IPAc-en|uk|æ|l|ˈ|b|iː|n|oʊ}},<ref>{{cite web |url= http://dictionary.reference.com/browse/albino |title=albino |work=Random House Dictionary |date=2017 |via=Dictionary.Reference.com |access-date=10 November 2017}}</ref> or {{IPAc-en|us|æ|l|ˈ|b|aɪ|n|oʊ}})<ref>{{cite web |url= https://www.macmillandictionary.com/pronunciation/american/albino |title=American Pronunciation of ''albino'' |work=Macmillan Dictionary |date=2017 |access-date=10 November 2017}}</ref>
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<!-- Definition and symptoms -->
'''Albinism''' is a congenital condition characterized in humans by the partial or complete absence of pigment in the skin, hair and eyes. Albinism is associated with a number of vision defects, such as [[Medicine:Photophobia|photophobia]], [[Medicine:Nystagmus|nystagmus]], and [[Medicine:Amblyopia|amblyopia]]. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers. In rare cases such as [[Medicine:Chédiak–Higashi syndrome|Chédiak–Higashi syndrome]], albinism may be associated with deficiencies in the transportation of melanin granules. This also affects essential granules present in immune cells, leading to increased susceptibility to infection.<ref>{{Cite journal |last1=Kaplan |first1=J. |last2=De Domenico |first2=I. |last3=Ward |first3=D. M. |doi=10.1097/MOH.0b013e3282f2bcce |title=Chediak-Higashi syndrome |journal=Current Opinion in Hematology |volume=15 |issue=1 |pages=22–29 |date=2008 |pmid=18043242|s2cid=43243529}}</ref>

<!-- Cause -->
Albinism results from inheritance of [[Biology:Dominance (genetics)|recessive gene]] [[Biology:Allele|allele]]s and is known to affect all [[Biology:Vertebrate|vertebrate]]s, including [[Biology:Human|human]]s. It is due to absence or defect of [[Biology:Tyrosinase|tyrosinase]], a copper-containing enzyme involved in the production of [[Chemistry:Melanin|melanin]]. Unlike humans, other animals have multiple pigments and for these, albinism is considered to be a hereditary condition characterised by the absence of melanin in particular, in the eyes, skin, hair, scales, feathers or cuticle.<ref>{{cite encyclopedia |url= http://www.britannica.com/EBchecked/topic/12993/albinism |title=Albinism |encyclopedia=Encyclopædia Britannica |access-date=27 January 2015}}</ref> While an organism with complete absence of melanin is called an albino, an organism with only a diminished amount of melanin is described as leucistic or albinoid.<ref name="Tietz">{{cite journal |last=Tietz |first=W. |title=A Syndrome of Deaf-Mutism Associated with Albinism Showing Dominant Autosomal Inheritance |journal=American Journal of Human Genetics |volume=15 |pages=259–264 |pmid=13985019 |pmc=1932384 |date=1963 |issue=3}}</ref> The term is from the [[Social:Latin|Latin]] ''albus'', "white".

==Signs and symptoms==
[[File:Albinistic girl papua new guinea.jpg|thumb|left|Girl with albinism from Papua New Guinea]]There are two principal types of albinism: oculocutaneous, affecting the eyes, skin and hair, and [[Medicine:Ocular albinism|ocular]] affecting the eyes only.

There are different types of oculocutaneous albinism depending on which gene has undergone mutation. With some there is no pigment at all. The other end of the spectrum of albinism is "a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people".<ref>{{cite web |url= http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism |title=oculocutaneous albinism |author=<!--Staff writer(s); no by-line.--> |website=Genetics Home Reference |publisher=U.S. National Library of Medicine, [[Organization:National Institutes of Health|National Institutes of Health]] |location=Bethesda, Maryland |date=October 2015 |access-date=10 November 2017}}{{tertiary source|date=November 2017}}</ref>

According to the National Organization for Albinism and Hypopigmentation, "With ocular albinism, the color of the iris of the eye may vary from blue to green or even brown, and sometimes darkens with age. However, when an optometrist or ophthalmologist examines the eye by shining a light from the side of the eye, the light shines back through the iris since very little pigment is present."<ref>{{cite web |title=Information Bulletin – Ocular Albinism |url= http://www.albinism.org/site/c.flKYIdOUIhJ4H/b.9260357/k.A94A/Information_Bulletin__Ocular_Albinism.htm |publisher=National Organization for Albinism and Hypopigmentation |access-date=11 March 2017 |archive-url= https://web.archive.org/web/20170312070207/http://www.albinism.org/site/c.flKYIdOUIhJ4H/b.9260357/k.A94A/Information_Bulletin__Ocular_Albinism.htm |archive-date=12 March 2017 |url-status=dead}}</ref>

Because individuals with albinism have skin that entirely lacks the dark pigment melanin, which helps protect the skin from the sun's [[Physics:Ultraviolet|ultraviolet]] [[Physics:Radiation|radiation]], their skin can burn more easily from overexposure.<ref name="Atlas of Genetic Diagnosis">{{cite book |last=Chen |first=Harold |title=Atlas of genetic diagnosis and counseling |publisher=Humana Press |location=Totowa, New Jersey |date=2006 |pages=37–40 |isbn=9781588296818 |url= https://books.google.com/books?id=2VcdAXJ_dZkC&q=Albinism&pg=PA36 |access-date=22 July 2010}}</ref>

The human eye normally produces enough pigment to color the [[Medicine:Iris (anatomy)|iris]] blue, green or brown and lend opacity to the eye. In photographs, those with albinism are more likely to demonstrate "red eye", due to the red of the [[Biology:Retina|retina]] being visible through the iris. Lack of pigment in the eyes also results in problems with vision, both related and unrelated to [[Medicine:Photosensitivity|photosensitivity]].<ref>{{Cite book |last=Khanna |first=Pragya |url= https://books.google.com/books?id=ByQ07W-RxIwC |title=Essentials of Genetics |date=30 December 2013 |publisher=I. K. International |isbn=9789380026343}}</ref>

Those with albinism are generally as healthy as the rest of the population (but see related disorders below), with growth and development occurring as normal, and albinism by itself does not cause mortality,<ref name="eMedicine1" /> although the lack of pigment blocking [[Physics:Ultraviolet|ultraviolet]] [[Physics:Radiation|radiation]] increases the risk of melanomas (skin cancers) and other problems.<ref>{{Cite book |last1=Richter |first1=Roxane |last2=Flowers |first2=Thomas |last3=Bongmba |first3=Elias |url= https://books.google.com/books?id=Ik8DDgAAQBAJ |title=Witchcraft as a Social Diagnosis: Traditional Ghanaian Beliefs and Global Health |date=2017 |publisher=Lexington Books |isbn=9781498523196}}</ref>

===Visual problems===
[[Image:Mali Salif Keita2 400.jpg|thumb|upright|Malian Mandinka singer Salif Keita with albinism]]
Development of the optical system is highly dependent on the presence of melanin. For this reason, the reduction or absence of this pigment in people with albinism may lead to:
* Misrouting of the retinogeniculate projections, resulting in abnormal [[Biology:Decussation|decussation]] (crossing) of optic nerve fibres<ref name="Atlas of Genetic Diagnosis" />
* [[Medicine:Photophobia|Photophobia]] and decreased [[Biology:Visual acuity|visual acuity]] due to light scattering within the eye (ocular straylight)<ref name="Atlas of Genetic Diagnosis" /><ref>{{cite journal |title=Ocular Straylight in Albinism |journal=Optometry and Vision Science |volume=88 |issue=5 |pages=E585–592 |date=2011 |last1=Kruijt |first1=Bastiaan |last2=Franssen |first2=Luuk |last3=Prick |first3=Liesbeth J. J. M. |last4=Van Vliet |first4=Johannes M. J. |last5=Van Den Berg |first5=Thomas J. T. P. |doi=10.1097/OPX.0b013e318212071e |pmid=21358444|s2cid=24992321}}</ref> Photophobia is specifically when light enters the eye, unrestricted{{snd}}with full force. It is painful and causes extreme sensitivity to light.<ref>{{Cite web |url= http://www.lensshopper.com/eye-disorders/how-albinism-affects-vision.asp |title=How Albinism Affects Vision |website=LensShopper.com |language=sv |access-date=22 February 2017}}</ref>{{Unreliable source?|certain=y|date=November 2017|reason=Random e-shopping sites are not reliable sources for medical information. See WP:MEDRS.}}
* Reduced visual acuity due to [[Medicine:Macular hypoplasia|foveal hypoplasia]] and possibly light-induced [[Biology:Retina|retina]]l damage.<ref name="Atlas of Genetic Diagnosis" />

Eye conditions common in albinism include:
* [[Medicine:Nystagmus|Nystagmus]], irregular rapid movement of the eyes back and forth, or in circular motion.<ref name="Atlas of Genetic Diagnosis" />
* [[Medicine:Amblyopia|Amblyopia]], decrease in acuity of one or both eyes due to poor transmission to the brain, often due to other conditions such as [[Medicine:Strabismus|strabismus]].<ref name="Atlas of Genetic Diagnosis" />
* [[Medicine:Optic nerve hypoplasia|Optic nerve hypoplasia]], underdevelopment of the optic nerve.

The improper development of the [[Medicine:Retinal pigment epithelium|retinal pigment epithelium]] (RPE), which in normal eyes absorbs most of the reflected sunlight, further increases glare due to light scattering within the eye.<ref name="Optometry Albinism">{{cite web |title=Albinism |pages=63A–65A |url= https://www.reviewofoptometry.com/CMSDocuments/2009/9/ro0409_handbook.pdf |url-status=live |archive-url= https://web.archive.org/web/20150824100916/https://www.reviewofoptometry.com/CMSDocuments/2009/9/ro0409_handbook.pdf |archive-date=24 August 2015 |work=The Handbook of Ocular Disease Management: Supplement to Review of Optometry |first1=Joseph W. |last1=Sowka |first2=Andrew S. |last2=Gurwood |first3=Allan G. |last3=Kabat |publisher=Jobson Medical Information |location=New York |edition=11th |date=15 April 2009 |via=ReviewOfOptometry.com |access-date=10 November 2017}}<!--Note: Albinism has been removed, for some reason, from at least the 12th (2010) through 18th (2016) editions.--></ref> The resulting sensitivity (photophobia) generally leads to discomfort in bright light, but this can be reduced by the use of sunglasses or brimmed hats.<ref name="Facts Albinism" />

==Genetics==
[[File:Gould Pyle 73.jpg|thumb|Family with albinism, showing inheritance]]
[[Medicine:Oculocutaneous albinism|Oculocutaneous albinism]] is generally the result of the biological inheritance of genetically recessive [[Biology:Allele|allele]]s ([[Biology:Gene|gene]]s) passed from both parents of an individual such as OCA1 and [[Biology:OCA2|OCA2]].  A mutation in the human TRP-1 gene may result in the deregulation of melanocyte tyrosinase enzymes, a change that is hypothesized to promote brown versus black melanin synthesis, resulting in a third oculocutaneous albinism (OCA) genotype, "OCA3".<ref>{{cite journal |title=Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: A new subtype of albinism classified as "OCA3" |last1=Boissy |first1=R. E. |last2=Zhao |first2=H. |last3=Oetting |first3=W. S. |last4=Austin |first4=L. M. |last5=Wildenberg |first5=S. C. |last6=Boissy |first6=Y. L. |last7=Zhao |first7=Y. |last8=Sturm |first8=R. A. |last9=Hearing |first9=V. J. |last10=King |first10=R. A. |last11=Nordlund |first11=J. J. |journal=American Journal of Human Genetics |volume=58 |issue=6 |date=1996 |pages=1145–1156 |pmid=8651291 |pmc=1915069}}</ref> 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.<ref name="eMedicine1">{{cite web |last=Boissy |first=Raymond E. |title=Dermatologic Manifestations of Albinism |date=21 July 2016 |url= https://emedicine.medscape.com/article/1068184-overview |work=[[Medicine:Medscape|Medscape]] |editor-first=William D. |editor1-last=James |display-editors=etal |publisher=[[Medicine:EMedicine|eMedicine]] / [[Company:WebMD|WebMD]] |access-date=10 November 2017}}</ref><ref name="OMIM1">[https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=omim&term=albinism Online ''Mendelian Inheritance in Man''], at [[Organization:Johns Hopkins University|Johns Hopkins University]] {{crossref|(see also Mendelian Inheritance in Man for more information about this source)}}.</ref>  Some of these are associated with increased risk of skin cancer {{crossref|(see list of such genetic variations)}}.

The chance of offspring with albinism resulting from the pairing of an organism with albinism and one without albinism is low. However, because organisms (including humans) 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 sexes.<ref name="eMedicine1" /> An exception to this is [[Medicine:Ocular albinism|ocular albinism]], which it is passed on to offspring through X-linked inheritance. Thus, ocular albinism occurs more frequently in males as they have a single X and Y [[Biology:Chromosome|chromosome]], unlike females, whose genetics are characterized by two X&nbsp;chromosomes.<ref>{{cite encyclopedia |last=Haldeman-Englert |first=Chad |url= https://medlineplus.gov/ency/article/002051.htm |title=Sex-linked recessive |encyclopedia=The ADAM Medical Encyclopedia |date=6 November 2017 |publisher=U.S. National Library of Medicine, National Institutes of Health / Ebix Inc. |location=Bethesda, Maryland / Atlanta, Georgia, US |access-date=10 November 2017}}</ref>

There are two different forms of albinism: a partial lack of the melanin is known as hypomelanism, or hypomelanosis, and the total absence of melanin is known as amelanism or amelanosis.<ref>{{Cite book |last=Frayne |first=James F. |title=Applications of Genetics |publisher=Montana Publications |date=2018}}</ref>

===Enzyme===
The enzyme defect responsible for OCA1-type albinism is tyrosine 3-monooxygenase (tyrosinase), which synthesizes melanin from the amino acid [[Chemistry:Tyrosine|tyrosine]].
<ref>{{cite journal |pmc=3879332 |date=2014 |last1=Dolinska |first1=M. B. |last2=Kovaleva |first2=E. |last3=Backlund |first3=P. |last4=Wingfield |first4=P. T. |last5=Brooks |first5=B. P. |last6=Sergeev |first6=Y. V. |title=Albinism-Causing Mutations in Recombinant Human Tyrosinase Alter Intrinsic Enzymatic Activity |journal=PLOS ONE |volume=9 |issue=1 |pages=e84494 |doi=10.1371/journal.pone.0084494 |pmid=24392141 |bibcode=2014PLoSO...984494D |doi-access=free}}</ref>

===Evolutionary theories===
It is suggested that the early genus ''[[Biology:Homo|Homo]]'' (humans in the broader sense) started to evolve in East Africa around 3 million years ago.<ref name="royalsocietypublishing.org">{{cite journal |last=Greaves |first=M. |date=2014 |title=Was skin cancer a selective force for black pigmentation in early hominin evolution? |journal=Proceedings of the Royal Society B: Biological Sciences |volume=281 |issue=1781 |pages=20132955 |doi=10.1098/rspb.2013.2955 |pmid=24573849 |pmc=3953838}}</ref> The dramatic [[Biology:Phenotype|phenotypic]] change from the ape-like ''[[Biology:Australopithecus|Australopithecus]]'' to early ''Homo'' is hypothesized to have involved the extreme loss of body hair – except for areas most exposed to UV radiation, such as the head – to allow for more efficient [[Physics:Thermoregulation|thermoregulation]] in the early hunter-gatherers. The skin that would have been exposed upon general body hair loss in these early proto-humans would have most likely been non-pigmented, reflecting the pale skin underlying the hair of our chimpanzee relatives. A positive advantage would have been conferred to early hominids inhabiting the African continent that were capable of producing darker skin – those who first expressed the eumelanin-producing MC1R [[Biology:Allele|allele]] – which protected them from harmful epithelium-damaging ultraviolet rays. Over time, the advantage conferred to those with darker skin may have led to the prevalence of darker skin on the continent. The positive advantage, however, would have had to be strong enough so as to produce a significantly higher reproductive fitness in those who produced more melanin. The cause of a selective pressure strong enough to cause this shift is an area of much debate. Some hypotheses include the existence of significantly lower reproductive fitness in people with less melanin due to lethal skin cancer, lethal kidney disease due to excess [[Chemistry:Vitamin D|vitamin D]] formation in the skin of people with less melanin, or simply natural selection due to mate preference and sexual selection.<ref name="royalsocietypublishing.org" />

When comparing the prevalence of albinism in Africa to its prevalence in other parts of the world, such as Europe and the United States, the potential evolutionary effects of skin cancer as a selective force due to its effect on these populations may not be insignificant.<ref name="royalsocietypublishing.org" /> It would follow, then, that there would be stronger selective forces acting on albino individuals in Africa than on albinos in Europe and the US.<ref name="biomedcentral.com">{{cite journal |last1=Hong |first1=E. S. |last2=Zeeb |first2=H. |last3=Repacholi |first3=M. H. |title=Albinism in Africa as a public health issue |journal=BMC Public Health |volume=6 |pages=212 |doi=10.1186/1471-2458-6-212 |pmid=16916463 |pmc=1584235 |date=2006 |doi-access=free}}</ref> In two separate studies in Nigeria, very few people with albinism appear to survive to old age. One study found that 89% of people diagnosed with albinism are between 0 and 30 years of age, while the other found that 77% of albinos were under the age of 20.<ref name="biomedcentral.com" />

However, it has also been theorized that albinism may have been able to spread in some Native American communities, because albino males were culturally revered and assumed as having divine origins. The very high incidence of albinism among the Hopi tribe has been frequently attributed to the privileged status of albino males in Hopi society, who were not required to perform physical work outdoors, shielding them from the harmful effects of UV radiation. This privileged status of albino males in Hopi society allowed them to reproduce with large numbers of non-albino women, spreading the genes that are associated with albinism.<ref>{{cite book |last1=Hedrick |first1=Philip W. |title=Genetics of Populations |date=2005 |publisher=Jones & Bartlett Learning |isbn=9780763747725 |pages=2, 186 |url= https://books.google.com/books?id=rzoLdpRMR1gC&dq=albino+male+sexual+hopi&pg=PA186 |language=en |quote= "An often-cited example of pleiotropic effects of viability and male-mating success in humans is for albinism in Hopi Indians, a small tribe in northern Arizona."}}</ref><ref>{{cite book |last1=Shuttleworth |first1=Russell P. |title=The Pursuit of Sexual Intimacy for Men with Cerebral Palsy |date=2000 |publisher=University of California, San Francisco |page=74 |url= https://books.google.com/books?id=nacDq2gTeAQC&q=albino+male+sexual+hopi |language=en |quote="The apparent reason for this phenomenon is that albino Hopi men developed a sexual advantage over non-albino men."}}</ref>

==Diagnosis==
[[Medicine:Genetic testing|Genetic testing]] can confirm albinism and what variety it is, but offers no medical benefits, except in the case of non-OCA disorders. Such disorders cause other medical problems in conjunction with albinism, and may be treatable. Genetic tests are currently available for parents who want to find out if they are carriers of ty-neg albinism. Diagnosis of albinism involves carefully examining a person's eyes, skin and hairs. Genealogical analysis can also help.

Albinism can also be a feature of several syndromes:<ref>{{Cite web |title=Albinism (Concept Id: C0001916) |url=https://www.ncbi.nlm.nih.gov/medgen/182 |access-date=2023-12-12 |website=www.ncbi.nlm.nih.gov |language=en}}</ref>

* [[Medicine:ABCD syndrome|ABCD syndrome]]
* Albinism-[[Medicine:Hearing loss|hearing loss]] syndrome
* [[Medicine:Deafness|Deafness]], congenital, with total albinism
* Ermine phenotype
* [[Medicine:Hermansky–Pudlak syndrome|Hermansky-Pudlak syndrome]] 1 to 11 (excluding 9)
* [[Medicine:Microcephaly albinism digital anomalies syndrome|Microcephaly-albinism-digital anomalies syndrome]]
* [[Biology:Ocular albinism late onset sensorineural deafness|Ocular albinism with late-onset sensorineural deafness]]
* [[Medicine:Ocular albinism|Ocular albinism]], type II
* [[Medicine:Oculocutaneous albinism|Oculocutaneous albinism]] types 1B, 3 to 7
* [[Biology:Tyrosinase|Tyrosinase]]-negative oculocutaneous albinism
* [[Medicine:Tyrosinemia type II|Tyrosinase-positive oculocutaneous albinism]]
* [[Medicine:Vici syndrome|Vici syndrome]]
* [[Medicine:Waardenburg syndrome|Waardenburg syndrome]] type 2A

==Management==
Since there is no cure for albinism, it is managed through lifestyle adjustments. People with albinism need to take care not to get sunburnt and should have regular healthy skin checks by a dermatologist.

For the most part, treatment of the eye conditions consists of visual rehabilitation. Surgery is possible on the [[Medicine:Extraocular muscles|extra-ocular muscles]] to decrease [[Medicine:Strabismus|strabismus]].<ref name="Atlas of Genetic Diagnosis" /> [[Medicine:Nystagmus|Nystagmus]]-damping surgery can also be performed, to reduce the "shaking" of the eyes back and forth.<ref name="Surgical management of nystagmus">{{cite journal |last=Lee |first=J. |title=Surgical management of nystagmus |journal=Journal of the Royal Society of Medicine |volume=95 |issue=5 |pages=238–241 |date=May 2002 |pmid=11983764 |pmc=1279676 |doi=10.1177/014107680209500506}}</ref> The effectiveness of all these procedures varies greatly and depends on individual circumstances.

[[Engineering:Glasses|Glasses]] (often with tinted lenses), low vision aids, large-print materials, and bright angled reading lights can help individuals with albinism. Some people with albinism do well using [[Engineering:Bifocals|bifocals]] (with a strong reading lens), prescription reading glasses, hand-held devices such as magnifiers or [[Astronomy:Monocular|monocular]]s or wearable devices like [[Engineering:ESight|eSight]]
and [[Engineering:Brainport|Brainport]].<ref name="Facts Albinism">{{cite web |title=Facts About Albinism |first1=Richard |last1=King |first2=C. Gail |last2=Summers |first3=James W. |last3=Haefemeyer |first4=Bonnie |last4=LeRoy |date=2004 |work=Albinism.Med.UMN.edu |publisher=University of Minnesota |url= http://albinism.med.umn.edu/newfacts.htm |url-status=dead |archive-url= https://web.archive.org/web/20090125144209/http://albinism.med.umn.edu/newfacts.htm |archive-date=25 January 2009 |access-date=10 November 2017}}</ref><ref>{{cite magazine |last1=Pardes |first1=Arielle |title=The Wearables Giving Computer Vision to the Blind |url= https://www.wired.com/story/wearables-for-the-blind/ |magazine=Wired |publisher=Condé Nast |access-date=8 September 2017 |date=20 July 2017}}</ref>

The condition may lead to abnormal development of the [[Biology:Optic nerve|optic nerve]] and sunlight may damage the [[Biology:Retina|retina]] of the eye as the [[Medicine:Iris (anatomy)|iris]] cannot filter out excess light due to a lack of pigmentation. [[Medicine:Photophobia|Photophobia]] may be ameliorated by the use of sunglasses which filter out ultraviolet light.<ref name="news medical">{{cite web |url= https://www.news-medical.net/health/Albinism-Causes.aspx |title=Albinism causes |date=20 March 2018 |website=News-Medical.net |access-date=27 July 2018}}</ref> 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".)

There are a number of national support groups across the globe which come under the umbrella of the World Albinism Alliance.<ref>{{cite web |last1=Anon |title=World Albinism Alliance |url= https://worldalbinism.org/2015/01/07/introduction-to-the-world-albinism-alliance/ |publisher=WAA |access-date=27 July 2018 |date=7 January 2015 |archive-date=27 July 2018 |archive-url= https://web.archive.org/web/20180727181056/https://worldalbinism.org/2015/01/07/introduction-to-the-world-albinism-alliance/ |url-status=dead}}</ref>

==Epidemiology==
Albinism affects people of all ethnic backgrounds; its frequency worldwide is estimated to be approximately one in 17,000. Prevalence of the different forms of albinism varies considerably by population, and is highest overall in people of sub-Saharan African descent.<ref name="Oculocutaneous albinism">{{cite journal |last1=Gronskov |first1=K. |last2=Ek |first2=J. |last3=Brondum-Nielsen |first3=K. |title=Oculocutaneous albinism |journal=Orphanet Journal of Rare Diseases |date=2 November 2007 |doi=10.1186/1750-1172-2-43 |pmc=2211462 |pmid=17980020 |volume=2 |pages=43 |doi-access=free}}</ref> Today, the prevalence of albinism in [[Place:Sub-Saharan Africa|sub-Saharan Africa]] is around 1 in 5,000, while in Europe and the US it is around 1 in 20,000 of the European derived population.<ref>{{Cite web |url= https://www.albinism.org/about-albinism/ |title=About Albinism and Hypopigmentation |work=Albinism.org |publisher=National Organization for Albinism and Hypopigmentation |date=15 December 2020}}</ref><ref name="royalsocietypublishing.org" /> Rates as high as 1 in 1,000 have been reported for some populations in Zimbabwe and other parts of [[Place:Southern Africa|Southern Africa]].<ref name="biomedcentral.com"/>

Certain ethnic groups and populations in isolated areas exhibit heightened susceptibility to albinism, presumably due to genetic factors. These include notably the Native American Kuna, Zuni and Hopi nations (respectively of Panama, New Mexico and Arizona); {{wipe|Japan}}, in which one particular form of albinism is unusually common (OCA 4);<ref>{{Cite web |title=Entry - #606574 - Albinism, Oculocutaneous, Type IV; OCA4 - OMIM |url= https://omim.org/entry/606574 |access-date=5 March 2023 |website=omim.org}}</ref> and Ukerewe Island, the population of which shows a very high incidence of albinism.<ref>{{cite web |url= http://www.southern-africas-children.org.uk/ukerewe-albino.html |title=Ukerewe Albino Society |date=2009 |work=Southern Africa's Children |access-date=21 July 2010 |archive-url= https://archive.today/20121224142247/http://www.southern-africas-children.org.uk/ukerewe-albino.html |archive-date=24 December 2012 |url-status=dead}}</ref>

==Society and culture==
In physical terms, humans with albinism commonly have visual problems and need sun protection.
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===Special status of albinos in Native American culture===
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|Description   = The man seated left is a Zuni with albinism. The Zuni people and other indigenous tribes of the American Southwest have a very high incidence of albinism.<ref>{{cite journal |last1=Yi |first1=Z |last2=Garrison |first2=N |last3=Cohen-Barak |first3=O |last4=Karafet |first4=TM |last5=King |first5=RA |last6=Erickson |first6=RP |last7=Hammer |first7=MF |last8=Brilliant |first8=MH |title=A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. |journal=American Journal of Human Genetics |date=January 2003 |volume=72 |issue=1 |pages=62–72 |doi=10.1086/345380 |pmid=12469324|pmc=420013}}</ref>
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In some Native American and South Pacific cultures, people with albinism have been traditionally revered, because they were considered heavenly beings associated with the [[Astronomy:Sky|sky]].<ref name="Hendrick" /><ref>{{cite book |last1=Lester |first1=Paul Martin |title=Visual Communication: Images with Messages |date=2003 |publisher=Thomson/Wadsworth |isbn=9780534562441 |page=17 |url= https://books.google.com/books?id=oG9QAAAAMAAJ&q=native+americans+albinos+%22visual+communication%22 |language=en}}</ref> Among various indigenous tribes in [[Earth:South America|South America]], albinos were able to live luxurious lives due to their divine status.<ref>{{cite book |last1=Kromberg |first1=Jennifer |last2=Manga |first2=Prashiela |title=Albinism in Africa: Historical, Geographic, Medical, Genetic, and Psychosocial Aspects |date=2 January 2018 |publisher=Academic Press |isbn=9780128133170 |page=58 |url= https://books.google.com/books?id=rScsDwAAQBAJ&dq=native+americans+revered+albinism&pg=PA58 |language=en}}</ref> This special status was applied mainly to male albinos.<ref>{{cite book |last1=Nagle |first1=James J. |title=Heredity and Human Affairs |date=1984 |publisher=Times Mirror/Mosby |isbn=9780801636264 |page=291 |url= https://books.google.com/books?id=SV8KAQAAMAAJ&q=hopi+albinism+social+status |language=en |quote= "Albino men in particular have been socially accepted in the dark-skinned Hopi society."}}</ref> It has been theorized that the very high level of albinism among some Native American tribes can be attributed to sexual privileges given to male albinos, which allowed them to reproduce with large numbers of non-albino women in their tribes, leading to the spread of genes that are associated with albinism.<ref name="Hendrick">{{cite journal |last1=Hedrick |first1=Philip W. |title=Hopi Indians, cultural selection, and albinism |journal=American Journal of Physical Anthropology |date=June 2003 |volume=121 |issue=2 |pages=151–156 |doi=10.1002/ajpa.10180 |pmid=12740958 |url= https://pubmed.ncbi.nlm.nih.gov/12740958/ |language=en |issn=0002-9483}}</ref>

===Persecution of people with albinism===
{{Main|Social:Persecution of people with albinism}}
Humans with albinism often face social and cultural challenges (even threats), as the condition is often a source of ridicule, discrimination, or even fear and violence. It is especially socially stigmatised in many African societies. A study conducted in Nigeria on albino children stated that "they experienced alienation, avoided social interactions and were less emotionally stable. Furthermore, affected individuals were less likely to complete schooling, find employment, and find partners".<ref>{{cite journal |last1=Magna |first1=P. |title=Biology and genetics of Oculocutaneous albinism and vitiligo-common pigmentation disorders in Southern Africa |journal=South African Medical Journal |date=January 2014 |volume=103 |issue=1| pmid=24300644 |pages=984–988 |url= http://www.ajol.info/index.php/samj/article/view/98355|doi=10.7196/samj.7046 |doi-access=}}</ref> Many cultures around the world have developed beliefs regarding people with albinism.

In African countries such as Tanzania<ref>{{cite news |url= http://news.bbc.co.uk/1/hi/world/africa/7518049.stm |title=Living in fear: Tanzania's albinos |work=BBC News |author=<!--Staff writer(s); no by-line.--> |publisher=British Broadcasting Corporation |date=21 July 2008 |access-date=27 February 2010}}</ref> and Burundi,<ref name="bbc.co.uk">{{cite news |url= https://www.bbc.co.uk/news/world-africa-11614957 |title=Burundi albino boy 'dismembered' |work=BBC News |author=<!--Staff writer(s); no by-line.--> |date=24 October 2010}}</ref><ref>{{cite news |url= http://news.bbc.co.uk/1/hi/world/africa/8057956.stm |title=Burundian albino murders denied |work=BBC News |author=<!--Staff writer(s); no by-line.--> |date=19 May 2009 |access-date=27 February 2010}}</ref> there has been an unprecedented rise in [[Social:Witchcraft|witchcraft]]-related killings of people with albinism in recent years, because their body parts are used in potions sold by [[Religion:Witch doctor|witch doctor]]s.<ref>{{cite news |url= http://www.visuramagazine.com/franck-vogel-zeru-zeru |first=Franck |last=Vogel |title=Zeru, Zeru: Being Albino in Tanzania |work=Visura Magazine |publisher=Foto Visura |location=Westford, Vermont |issue=10 |date=August 2010 |access-date=10 November 2017}}</ref> Numerous authenticated incidents have occurred in Africa during the 21st century.<ref>{{cite news |url= http://news.bbc.co.uk/1/hi/world/africa/7726743.stm |title=Man 'tried to sell' albino wife |work=BBC News |author=<!--Staff writer(s); no by-line.--> |date=13 November 2008 |access-date=27 February 2010}}</ref><ref>{{cite news |url= http://news.bbc.co.uk/1/hi/africa/7527729.stm |title=Tanzania albinos targeted again |work=BBC News |author=<!--Staff writer(s); no by-line.--> |date=27 July 2008 |access-date=27 February 2010}}</ref><ref>{{cite news |last=Ntetema |first=Vicky |url= http://news.bbc.co.uk/1/hi/world/africa/7523796.stm |title=In hiding for exposing Tanzania witchdoctors |work=BBC News |author=<!--Staff writer(s); no by-line.--> |date=24 July 2008 |access-date=27 February 2010}}</ref><ref>{{cite news |url= http://news.bbc.co.uk/1/hi/world/africa/7730193.stm |title=Mothers hacked in albino attacks |work=BBC News |date=14 November 2008 |access-date=27 February 2010}}</ref> For example, in Tanzania, in September 2009, three men were convicted of killing a 14-year-old albino boy and severing his legs in order to sell them for witchcraft purposes.<ref>{{cite news |url= http://news.bbc.co.uk/1/hi/world/africa/8270446.stm |title=Death for Tanzania albino killers |work=BBC News |author=<!--Staff writer(s); no by-line.--> |date=23 September 2009 |access-date=27 February 2010}}</ref>  Again in Tanzania and Burundi in 2010, the murder and dismemberment of a kidnapped albino child was reported from the courts,<ref name="bbc.co.uk" /> as part of a continuing problem.  The US-based [[Organization:National Geographic Society|National Geographic Society]] estimated that in Tanzania a complete set of albino body parts is worth {{wipe|United States dollar}}75,000.<ref>{{cite news |url= http://news.nationalgeographic.com/news/2013/01/130125-albino-albinism-tanzania-witch-doctors/ |archive-url= https://web.archive.org/web/20130127191203/http://news.nationalgeographic.com/news/2013/01/130125-albino-albinism-tanzania-witch-doctors/ |url-status= dead |archive-date= 27 January 2013 |title=Pictures: Inside the Lives of Albinos in Tanzania |first1=Sasha |last1=Ingber |first2=Jacquelyn |last2=Martin |work=National Geographic News |publisher=[[Organization:National Geographic Society|National Geographic Society]] |location=Washington DC |date=27 January 2013 |access-date=10 November 2017}}</ref><ref>{{Cite video |title=Tanzanians with albinism targeted for witchcraft |date=30 April 2015 |publisher=UNICEF |via=YouTube |url= https://www.youtube.com/watch?v=ocwWzE6_u20 |archive-url= https://ghostarchive.org/varchive/youtube/20211123/ocwWzE6_u20 |archive-date=23 November 2021 |url-status=live |access-date=22 February 2017}}{{cbignore}}</ref>

Another harmful and false belief is that sex with an albinistic woman will cure a man of [[Biology:HIV|HIV]]. This has led, for example in Zimbabwe, to rapes (and subsequent HIV infection).<ref>{{cite web |url= http://www.ipsnews.net/2002/11/rights-zimbabwe-the-last-minority-group-to-find-a-voice/ |title=The Last Minority Group to Find a Voice |last=Machipisa |first=Lewis |work=IPSNews.net |date=25 November 2002 |publisher=Inter Press Service News Agency |access-date=30 January 2010 |url-status=live |archive-url= https://web.archive.org/web/20090121145742/http://ipsnews.net/interna.asp?idnews=14122 |archive-date=21 January 2009}}</ref>

===Albinism in popular culture===
Famous people with albinism include historical figures such as [[Organization:University of Oxford|Oxford]] don William Archibald Spooner; actor-comedian Victor Varnado; musicians such as Johnny and Edgar Winter, Salif Keita, Winston "Yellowman" Foster, Brother Ali, Sivuca, Hermeto Pascoal, Willie "Piano Red" Perryman, Kalash Criminel; actor-rapper Krondon, and fashion models Connie Chiu, Ryan "La Burnt" Byrne and Shaun Ross.  Emperor Seinei of Japan is thought to have been an albino because he was said to have been born with white hair.<!--
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     ** Albinism in popular culture article.   **
     ** This section summarizes that article and   **
     ** provides a place to add SOURCED material   **
     ** about albinism and CULTURE, not POP CULTURE  **
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===International Albinism Awareness Day===
International Albinism Awareness Day was established after a motion was accepted on 18 December 2014 by the United Nations General Assembly, proclaiming that 13 June would be known as International Albinism Awareness Day as of 2015.<ref>{{cite web |title=International Albinism Awareness Day |url= https://www.un.org/en/events/albinismday/index.shtml}}</ref>  This was followed by a mandate created by the United Nations Human Rights Council that appointed Ms. Ikponwosa Ero, who is from Nigeria, as the first Independent Expert on the enjoyment of human rights by persons with albinism.<ref>{{cite web |title=Independent Expert on the enjoyment of human rights by persons with albinism |url= http://www.ohchr.org/EN/Issues/Albinism/Pages/IEAlbinism.aspx |work=OHCHR.org |publisher=Office of the High Commissioner for Human Rights, {{wipe|United Nations}} |location=Geneva}}</ref>

==See also==
{{Columns-list|colwidth=30em|
* [[Medicine:Albinism–deafness syndrome|Albinism–deafness syndrome]]
* Marie Antoinette syndrome
* Dyschromia
* Erythrism, unusually red pigmentation
* [[Medicine:Heterochromia iridum|Heterochromia iridum]]
* [[Philosophy:Human variability|Human variability]]
* [[Isabelline (colour)#In animals|Isabellinism]]
* Nevus, or birthmark
* [[Medicine:Piebaldism|Piebaldism]], patchy alternating loss of and concentrations of dermal pigmentation
* [[Medicine:Vitiligo|Vitiligo]] (or leukoderma), patchy loss of dermal pigmentation
* Xanthochromism and axanthism, unusually yellow pigmentation and lack of yellow pigment, respectively
* Light skin
}}

==References==
{{Reflist|30em}}

==External links==
{{Medical resources
 | DiseasesDB     = 318
 | ICD11          = {{ICD11|EC23.2}}
 | ICD10          = {{ICD10|E70.3}}
 | ICD9           = {{ICD9|270.2}}
 | ICDO           =
 | OMIM           = 203100
 | MedlinePlus    = 001479
 | eMedicineSubj  = derm
 | eMedicineTopic = 12
 | MeshID         = D000417
 | oMIM_mult      = {{OMIM4|103470}}, {{OMIM4|203200}}, {{OMIM4|606952}}, {{OMIM4|203290}}, {{OMIM4|203300}}, {{OMIM4|203310}}, {{OMIM4|256710}}, {{OMIM4|278400}}, {{OMIM4|214450}}, {{OMIM4|214500}}, {{OMIM4|220900}}, {{OMIM4|300500}}, {{OMIM4|300600}}, {{OMIM4|300650}}, {{OMIM4|300700}}, {{OMIM4|600501}}, {{OMIM4|604228}}, {{OMIM4|606574}}, {{OMIM4|606952}}, {{OMIM4|607624}}, {{OMIM4|609227}}
}}
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=oca2 GeneReview/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 2]
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=oca4 GeneReview/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 4]
* {{Skeptoid |id=4425 |number=425 |title=Albinism Facts and Fiction |date=29 July 2014 |access-date=}}



[[Category:Autosomal recessive disorders]]

{{Sourceattribution|Albinism in humans}}