Albinism in humans is a congenital disorder characterized by the
complete or partial absence of pigment in the skin, hair and eyes.
Albinism is associated with a number of vision defects, such as
photophobia, nystagmus, and amblyopia. Lack of skin pigmentation makes
for more susceptibility to sunburn and skin cancers. In rare cases
such as 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.
Albinism results from inheritance of recessive gene alleles and is
known to affect all vertebrates, including humans. It is due to
absence or defect of tyrosinase, a copper-containing enzyme involved
in the production of melanin. It is the opposite of melanism. 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. 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. The term is from
Latin albus, "white".
1 Signs and symptoms
1.1 Visual problems
2.2 Evolutionary theories
6 Society and culture
6.1 Persecution of people with albinism
Albinism in popular culture
Albinism Awareness Day
7 Other organisms
8 See also
10 External links
Signs and symptoms
Albino girl from Papua New Guinea
In humans, there are two principal types of albinism: oculocutaneous,
affecting the eyes, skin and hair, and 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
According to the National Organization for
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 eye doctor 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."
Because individuals with albinism have skin that entirely lacks the
dark pigment melanin, which helps protect the skin from the sun's
ultraviolet radiation, their skin can burn more easily from
The human eye normally produces enough pigment to color the 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
retina being visible through the iris. Lack of pigment in the eyes
also results in problems with vision, both related and unrelated to
Those afflicted 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, although the lack of pigment blocking ultraviolet
radiation increases the risk of melanomas (skin cancers) and other
Malian Mandinka albino singer Salif Keita
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
decussation (crossing) of optic nerve fibres
Photophobia and decreased visual acuity due to light scattering within
the eye (ocular straylight)
Photophobia is specifically when
light enters the eye, unrestricted—with full force. It is painful
and causes extreme sensitivity to light.[unreliable source]
Reduced visual acuity due to foveal hypoplasia and possibly
light-induced retinal damage.
Eye conditions common in albinism include:
Nystagmus, irregular rapid movement of the eyes back and forth, or in
Amblyopia, decrease in acuity of one or both eyes due to poor
transmission to the brain, often due to other conditions such as
Optic nerve hypoplasia, underdevelopment of the optic nerve.
The improper development of the retinal pigment epithelium (RPE),
which in normal eyes absorbs most of the reflected sunlight, further
increases glare due to light scattering within the eye. The
resulting sensitivity (photophobia) generally leads to discomfort in
bright light, but this can be reduced by the use of sunglasses or
Oculocutaneous albinism is generally the result of the biological
inheritance of genetically recessive alleles (genes) passed from both
parents of an individual for example
OCA1 and 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″. 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. Some of these
are associated with increased risk of skin cancer (see list of such
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. An exception to this is 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 chromosome, unlike females, whose genetics
are characterized by two X chromosomes.
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.
The enzyme defect responsible for OCA1-type albinism is tyrosine
3-monooxygenase (tyrosinase), which synthesizes melanin from the amino
It is suggested that the early hominin evolved in East Africa around 3
million years ago. The dramatic phenotypic change from primate to
early hominin 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 thermoregulation in the early
hunter-gatherers. The skin that would have been exposed upon general
body hair loss in these early hominins 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
MC1R 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 vitamin D formation
in the skin of people with less melanin, or simply natural selection
due to mate preference and sexual selection.
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. The
prevalence of albinism in some ethnic groups in sub-Saharan Africa is
around 1 in 5,000, while in Europe and the US it is 1 in 20,000.
It would follow, then, that there would be stronger selective forces
acting on albino populations in Africa than on albino populations in
Europe and the US. Rates as high as 1 in 1,000 have been reported for
some populations in
Zimbabwe and other parts of Southern Africa.
In two separate studies in Nigeria, people with albinism were found to
be of reproductively significant age more often than not. 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.
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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
that cause albinism along with other medical problems which may be
treatable. There is no 'cure' for Albinism. The symptoms of albinism
can be assisted by various methods.
Since there is no cure for albinism, it is managed through lifestyle
adjustments. People with albinism need to take care not to sunburn 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 extra-ocular muscles to
decrease strabismus. Nystagmus-damping surgery can also be
performed, to reduce the "shaking" of the eyes back and forth. The
effectiveness of all these procedures varies greatly and depends on
Glasses, low vision aids, large-print materials, and bright angled
reading lights can help individuals with albinism. Some people with
albinism do well using bifocals (with a strong reading lens),
prescription reading glasses, hand-held devices such as magnifiers or
monoculars or wearable devices like eSight and Brainport.
Albinism is often[dubious – discuss] associated with the absence of
an iris in the eye. Contact lenses may be colored to block light
transmission through the aniridic eye. 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".)
To support those with albinism, and their families, the National
Hypopigmentation was set up to provide a
network of resources and information.
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.
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); Japan, in
which one particular form of albinism is unusually common; and Ukerewe
Island, the population of which shows a very high incidence of
Society and culture
In physical terms, humans with albinism commonly have visual problems
and need sun protection.
Persecution of people with albinism
Main article: 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". Many cultures around the world
have developed beliefs regarding people with albinism.
In African countries such as Tanzania and Burundi, there
has been an unprecedented rise in witchcraft-related killings of
people with albinism in recent years, because their body parts are
used in potions sold by witchdoctors. Numerous authenticated
incidents have occurred in Africa during the 21st
century. 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.
Burundi in 2010, the murder and dismemberment of
a kidnapped albino child was reported from the courts, as part of
a continuing problem. The US-based National Geographic Society
estimated that in
Tanzania a complete set of albino body parts is
Another harmful and false belief is that sex with an albinistic woman
will cure a man of HIV. This has led, for example in Zimbabwe, to
rapes (and subsequent
Albinism in popular culture
Albinism in popular culture
Famous people with albinism include historical figures such as 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; and fashion models
Connie Chiu 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.
Albinism Awareness Day
Albinism Awareness Day was established after a motion
was accepted on 18 December 2014 by the
United Nations General
Assembly, proclaiming that as of 2015, 13 June would be known as
Albinism Awareness Day. This was followed by a
mandate created by the
Human Rights Council that
appointed Ms. Ikponwosa Ero, who is from Nigeria, as the very first
Independent Expert on the enjoyment of human rights by persons with
Corn plant with albinism
Albinism in biology
Albinism and other types of pigment mutations occur in both animals
Marie Antoinette syndrome
Erythrism, unusually red pigmentation
Nevus, or birthmark
National Organization for
Albinism and Hypopigmentation
Piebaldism, patchy alternating loss of and concentrations of dermal
Vitiligo (or leukoderma), patchy loss of dermal pigmentation
Xanthochromism and axanthism, unusually yellow pigmentation and lack
of yellow pigment, respectively
^ "albino". Random House Dictionary. 2017. Retrieved 10 November 2017
– via Dictionary.Reference.com.
^ "British Pronunciation of albino". Macmillan Dictionary. Macmillan
Publishers. 2017. Retrieved 10 November 2017.
^ "American Pronunciation of albino". Macmillan Dictionary. 2017.
Retrieved 10 November 2017.
^ Kaplan, J.; De Domenico, I.; Ward, D. M. (2008). "Chediak-Higashi
syndrome". Current Opinion in Hematology. 15 (1): 22–29.
doi:10.1097/MOH.0b013e3282f2bcce. PMID 18043242.
^ "Albinism". Encyclopædia Britannica. Retrieved January 27,
^ Tietz, W. (1963). "A Syndrome of Deaf-Mutism Associated with
Albinism Showing Dominant Autosomal Inheritance". American Journal of
Human Genetics. 15: 259–264. PMC 1932384 .
^ "oculocutaneous albinism". Genetics Home Reference. Bethesda,
Maryland: U.S. National Library of Medicine, National Institutes of
Health. October 2015. Retrieved 10 November 2017. This
tertiary source reuses information from other sources but does not
^ "Information Bulletin - Ocular Albinism". National Organization for
Albinism and Hypopigmentation. Retrieved 11 March 2017.
^ a b c d e f g Chen, Harold (2006). Atlas of genetic diagnosis and
counseling. Totowa, New Jersey: Humana Press. pp. 37–40.
ISBN 1-58829-681-4. Retrieved 22 July 2010.
^ a b c Boissy, Raymond E. (21 July 2016). James, William D.; et al.,
eds. "Dermatologic Manifestations of Albinism". Medscape. eMedicine /
WebMD. Retrieved 10 November 2017.
^ Kruijt, Bastiaan; Franssen, Luuk; Prick, Liesbeth J. J. M.; Van
Vliet, Johannes M. J.; Van Den Berg, Thomas J. T. P. (2011). "Ocular
Straylight in Albinism". Optometry and Vision Science. 88 (5): E585.
doi:10.1097/OPX.0b013e318212071e. PMID 21358444.
Albinism Affects Vision". LensShopper.com (in Swedish).
^ Sowka, Joseph W.; Gurwood, Andrew S.; Kabat, Allan G. (15 April
2009). "Albinism" (PDF). The Handbook of Ocular Disease Management:
Supplement to Review of Optometry (11th ed.). New York: Jobson Medical
Information. pp. 63A–65A. Archived (PDF) from the original on
24 August 2015. Retrieved 10 November 2017 – via
^ a b King, Richard; Summers, C. Gail; Haefemeyer, James W.; LeRoy,
Bonnie (2004). "Facts About Albinism". Albinism.Med.UMN.edu.
University of Minnesota. Archived from the original on 25 January
2009. Retrieved 10 November 2017.
^ Boissy, R. E.; Zhao, H.; Oetting, W. S.; Austin, L. M.; Wildenberg,
S. C.; Boissy, Y. L.; Zhao, Y.; Sturm, R. A.; Hearing, V. J.; King, R.
A.; Nordlund, J. J. (1996). "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"". American Journal of
Human Genetics. 58 (6):
1145–1156. PMC 1915069 . PMID 8651291.
^ Online Mendelian Inheritance in Man, at Johns Hopkins University
Mendelian Inheritance in Man for more information about this
^ Haldeman-Englert, Chad (6 November 2017). "Sex-linked recessive".
The ADAM Medical Encyclopedia. Bethesda, Maryland / Atlanta, Georgia,
US: U.S. National Library of Medicine,
National Institutes of Health
National Institutes of Health /
Ebix Inc. Retrieved 10 November 2017.
^ a b c Greaves, M. (2014). "Was skin cancer a selective force for
black pigmentation in early hominin evolution?". Proceedings of the
Royal Society B: Biological Sciences. 281 (1781): 20132955.
doi:10.1098/rspb.2013.2955. PMC 3953838 .
^ a b Hong, E. S.; Zeeb, H.; Repacholi, M. H. (2006). "
Africa as a public health issue". BMC Public Health. 6: 212.
doi:10.1186/1471-2458-6-212. PMC 1584235 .
^ Lee, J. (May 2002). "Surgical management of nystagmus". Journal of
the Royal Society of Medicine. 95 (5): 238–41.
doi:10.1258/jrsm.95.5.238. PMC 1279676 .
^ Pardes, Arielle. "The Wearables Giving Computer Vision to the
Blind". Wired. Condé Nast. Retrieved 8 September 2017.
^ Gronskov, K.; Ek, J.; Brondum-Nielsen, K. (2 November 2007).
"Oculocutaneous albinism". Orphanet Journal of Rare Diseases. 2: 43.
doi:10.1186/1750-1172-2-43. PMC 2211462 .
^ "Ukerewe Albino Society". Southern Africas Children. 2009. Retrieved
21 July 2010.
^ Magna, P. (January 2014). "Biology and genetics of Oculocutaneous
albinism and vitiligo-common pigmentation disorders in Southern
Africa". South African Medical Journal. 103 (1): 984–8.
^ "Living in fear: Tanzania's albinos". BBC News. British Broadcasting
Corporation. 21 July 2008. Retrieved 27 February 2010.
^ a b "
Burundi albino boy 'dismembered'". BBC News. 24 October
^ "Burundian albino murders denied". BBC News. 19 May 2009. Retrieved
27 February 2010.
^ Vogel, Franck (August 2010). "Zeru, Zeru: Being Albino in Tanzania".
Visura Magazine (10). Westford, Vermont: Foto Visura. Retrieved 10
^ "Man 'tried to sell' albino wife". BBC News. 13 November 2008.
Retrieved 27 February 2010.
Tanzania albinos targeted again". BBC News. 27 July 2008. Retrieved
27 February 2010.
^ Ntetema, Vicky (24 July 2008). "In hiding for exposing Tanzania
witchdoctors". BBC News. Retrieved 27 February 2010.
^ "Mothers hacked in albino attacks". BBC News. 14 November 2008.
Retrieved 27 February 2010.
^ "Death for
Tanzania albino killers". BBC News. 23 September 2009.
Retrieved 27 February 2010.
^ Ingber, Sasha; Martin, Jacquelyn (27 January 2013). "Pictures:
Inside the Lives of Albinos in Tanzania". National Geographic News.
Washington DC: National Geographic Society. Retrieved 10 November
^ Tanzanians with albinism targeted for witchcraft. UNICEF. 30 April
2015. Retrieved 2017-02-22 – via YouTube.
^ Machipisa, Lewis. "The Last Minority Group to Find a Voice".
IPSNews.net. Inter Press Service News Agency. Archived from the
original on 21 January 2009. Retrieved 30 January 2010.
Albinism Awareness Day".
^ "Independent Expert on the enjoyment of human rights by persons with
albinism". OHCHR.org. Geneva: Office of the High Commissioner for
Human Rights, United Nations.
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Patient UK: Albinism
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Look up albinism or albino in Wiktionary, the free dictionary.
GeneReview/NCBI/NIH/UW entry on Oculocutaneous
Albinism Type 2
GeneReview/NCBI/NIH/UW entry on Oculocutaneous
Albinism Type 4
Dyschromia (L80–L81, 709.0)
Loss of melanin/
Griscelli syndrome type 2
Griscelli syndrome type 3
Idiopathic guttate hypomelanosis
Progressive macular hypomelanosis
Yemenite deaf-blind hypopigmentation syndrome
Dermatopathia pigmentosa reticularis
Pigmentatio reticularis faciei et colli
Reticulate acropigmentation of Kitamura
Reticular pigmented anomaly of the flexures
X-linked reticulate pigmentary disorder
Inherited patterned lentiginosis in black persons
Ink spot lentigo
Partial unilateral lentiginosis
Erythema dyschromicum perstans
Lichen planus pigmentosus
Café au lait spot
Poikiloderma of Civatte
Poikiloderma vasculare atrophicans)
Shiitake mushroom dermatitis
Familial progressive hyperpigmentation
Photoleukomelanodermatitis of Kobori
Transient neonatal pustular melanosis
Iron metallic discoloration
Pigmented purpuric dermatosis
Doucas and Kapetanakis pigmented purpura/Eczematid-like purpura of
Doucas and Kapetanakis
Titanium metallic discoloration
Dyschromatosis symmetrica hereditaria
Dyschromatosis universalis hereditaria
Human skin color
Color terminology for race