
[French albinisme, from German Albinismus, from Albino, albino, from Portuguese. See albino.]
albinistic al'bi·nis'tic adj.For more information on albinism, visit Britannica.com.
Definition
Albinism is an inherited condition that is present at birth. It is characterized by a lack of melanin, the pigment that normally gives color to the skin, hair, and eyes. Many types of albinism exist, all of which involve lack of pigment in varying degrees. The condition, which is found in all races, may be accompanied by eye problems and may ultimately lead to skin cancer.
Description
The most common type of albinism is oculocutaneous albinism, which affects the eyes, hair, and skin. In its most severe form, hair and skin remain completely white throughout life. People with a less severe form are born with white hair and skin that turn slightly darker as they age. Everyone with oculocutaneous albinism experiences abnormal flickering eye movements (nystagmus) and sensitivity to bright light. There may be other eye problems as well, including poor vision and crossed or "lazy" eyes (strabismus).
The second most common type of the condition is known as ocular albinism, in which only the eyes lack color; skin and hair are normal. Some types of ocular albinism cause more problems, especially eye problems, than others.
Albinism is also referred to as hypopigmentation.
Demographics
Albinism is a rare disorder found in fewer than five people per 100,000 in the United States and Europe. Although albinism can affect all races, other parts of the world have a much higher rate; for example, albinism is found in about 20 out of every 100,000 people in southern Nigeria. The parents of most children with albinism have normal hair and eye color for their ethnic background and do not have a family history of albinism.
Causes and Symptoms
Albinism is an inherited problem caused by an alteration in one or more of the genes that are responsible for directing the eyes and skin to produce or distribute melanin, which is a photoprotective pigment that absorbs ultraviolet (UV) light coming from the sun so that the skin is not damaged. Sun exposure normally produces a tan, which is an increase in melanin pigment in the skin. Many people with albinism do not have melanin pigment in their skin, do not tan with exposure to the sun, and as a result develop sunburn. Over time, people with albinism may develop skin cancers if they do not adequately protect their skin from sun exposure.
Melanin is also important in the eyes and brain, but it is not known what role melanin plays in those areas. Parts of the retina do not develop correctly if melanin pigment is not present during development. Also nerve connections between the retina and brain are altered if melanin is not present in the retina during development.
Albinism is a autosomal recessive disease, which means that a person must have two copies of the defective gene to exhibit symptoms of the disease. The child therefore inherits one defective gene responsible for making melanin from each parents. Because the task of making melanin is complex, there are many different types of albinism, involving a number of different genes.
It is also possible to inherit one normal gene and one albinism gene. In this case, the one normal gene provides enough information to make some pigment, and the child has normal skin and eye color. The child has one gene for albinism. About one in 70 people are albinism carriers, with one defective gene but no symptoms; they have a 50 percent chance of passing the albinism gene to their child. However, if both parents are carriers with one defective gene each, they have a one in four chance of passing on both copies of the defective gene to the child, who will have albinism. There is also a type of ocular albinism that is carried on the X chromosome and occurs almost exclusively in males because they have only one X chromosome and, therefore, no other gene for the trait to override the defective one.
People with albinism may experience a variety of eye problems, including one or more of the following:
One of the myths about albinism is that it causes people to have pink or red eyes. In fact, people with albinism can have irises varying from light gray or blue to brown. (The iris is the colored portion of the eye that controls the size of the pupil, the opening that lets light into the eye.) If people with albinism seem to have reddish eyes, it is because light is being reflected from the back of the eye (retina) in much the same way as happens when people are photographed with an electronic flash. In addition, albinism does not cause blindness.
In addition to characteristically light skin and eye problems, people with a rare form of albinism called Hermansky-Pudlak syndrome (HPS) also have a greater tendency to have bleeding disorders, inflammation of the large bowel (colitis), lung (pulmonary) disease, and kidney (renal) problems.
When to Call the Doctor
The doctor should be called when a person with albinism exhibits symptoms such as photophobia that cause discomfort. Also the doctor should be consulted if there are any skin changes that might be an early sign of skin cancer.
The parent of a child with albinism should also call the doctor if the child bruises easily or has unusual bleeding, such as repeated nosebleeds or bloody diarrhea. The child may have the rare Hermansky-Pudlak syndrome, which requires additional medical care.
Diagnosis
It is not always easy to diagnose the exact type of albinism a person has. The specific type is sometimes determined by developing a thorough family history and by examining the patient and several close relatives. In the early 2000s, a blood test has been developed that can identify carriers of the gene for some types of albinism; a similar test during amniocentesis can diagnose some types of albinism in an unborn child. A chorionic villus sampling test during the fifth week of pregnancy may also reveal some types of albinism.
There are also two tests available that can identify two types of the condition. The hairbulb pigmentation test is used to identify carriers by incubating a piece of the person's hair in a solution of tyrosine, a substance in food which the body uses to make melanin. If the hair turns dark, it means the hair is making melanin (a positive test); light hair means there is no melanin. This test is the source of the names of two types of albinism: "typos" and "ty-neg."
The tyrosinase test is more precise than the hair-bulb pigmentation test. It measures the rate at which hair converts the amino acid tyrosine into another chemical (3,4-dihydroxyphenylalanine, or DOPA), which is then made into pigment. The hair converts tyrosine with the help of an enzyme called tyrosinase. In some types of albinism, a genetic defect in tyrosinase means that the amino acid tyrosine cannot be converted by tyrosinase into melanin.
Treatment
There is no treatment that can replace the lack of melanin that causes the symptoms of albinism. In addition, doctors can only treat, but not cure, the eye problems that often accompany the lack of skin color. Glasses or corrective lenses and low vision aids, for example, magnifiers, monoculars (handheld telescopes used with only one eye), or bioptics (glasses with small telescopic lenses mounted in the standard lenses) can improve vision but usually cannot correct vision to 20/20. The lenses can be tinted to ease pain from too much sunlight. For reading, children with albinism may or may not need materials with large print text, depending on the severity of their vision problems. There is no cure for involuntary eye movements (nystagmus), and treatments for focusing problems (surgery or contact lenses) are not effective in all cases.
Crossed eyes (strabismus) can be treated during infancy by using eye patches, surgery, or medicine injections. Treatment may improve the appearance of the eye, but it can do nothing to cure the underlying condition.
Patients with albinism should avoid excessive exposure to the sun, especially between 10 a.m. and 2 p.m., and should wear long sleeves and pants if possible. If exposure cannot be avoided, they should use a UVAUVB sunblock with an SPF rating at least 30.
Most children with albinism function satisfactorily in a mainstream classroom as long as the school provides classroom assistance for their vision needs. The child's eye doctor, the classroom teacher, and the school's vision resource teacher should work as a team with the parents to determine what classroom modifications and vision aids will best help the child. The local school district or the state agency for the blind should be contacted during the child's infancy or during preschool years to determine what assistive services might be available for the child. Early intervention allows parents and teachers to develop an educational plan for the child.
Prognosis
In the United States, people with this condition can expect to have a normal lifespan. However, one of the greatest health hazards for people with albinism is excessive exposure to sun without protection, which may lead to skin cancer. Wearing opaque clothes and sunscreen with at least an SPF rating of 30, people with albinism can safely work and play outdoors even during the summer.
Prevention
Genetic counseling should be considered for individuals with a family history of albinism.
Parental Concerns
Children with albinism may experience complex social problems because of their unusual appearance, especially when a member of a normally dark-skinned ethnic group has albinism. The eyes of children with albinism may move rapidly and not focus together, and the children may have to squint, tilt their heads, and hold reading materials close in order to see. These behaviors may result in the child being treated badly by peers. Modifications made for the children in the classroom and in physical education classes to compensate for low vision may make them feel even more isolated. Parents often feel that teasing and name-calling, insensitivity, and ignorance are the greatest challenges that they face with regards to their child's albinism. The support and love of these families of children with albinism are essential to helping the children understand and accept themselves. Support groups for the children and for their families, as well as counseling, may be useful for developing means of coping with the social effects of albinism.
Resources
Books
Albinism: A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References. San Diego, CA: Icon Health Publications, 2003.
Edwards, Lee G. Too White to Be Black and Too Black to Be White: Living with Albinism. Bloomington, IN: AuthorHouse, 2001.
Mitchell, Elizabeth Tromsness. Albinism in the Family: Albinismo en la Familia. Bloomington, IN: AuthorHouse, 2004.
Organizations
Albinism World Alliance. Web site: www.albinism.org/awa.html.
American Foundation for the Blind. 11 Penn Plaza, Suite 300 New York, NY 10001. Web site: www.afb.org/.
Hermansky-Pudlak Syndrome Network Inc. One South Road, Oyster Bay, NY 11771–1905. Web site: www.hpsnetwork.org/HTML/frame.html.
National Organization for Albinism and Hypopigmentation (NOAH). PO Box 959, East Hampstead, NH 03826–0959. Web site: www.albinism.org.
Web Sites
King, Richard A., et al. "Facts about Albinism." International Albinism Center, University of Minnesota. Available online at www.cbc.umn.edu/iac/facts.htm (accessed November 8, 2004).
[Article by: Judith L. Sims Carol A. Turkington]
| alarmone, alanyl, alaninol | |
| albumin, albuminoid, albuminuria |
Congenital absence of normal pigmentation in the body (hair, skin, eyes).

| Albinism | |
|---|---|
| Classification and external resources | |
An African boy with albinism |
|
| ICD-10 | E70.3 |
| ICD-9 | 270.2 |
| OMIM | 203100 103470, 203200, 606952, 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, also called achromia, achromasia, or achromatosis) is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of an enzyme involved in the production of melanin. Albinism results from inheritance of recessive gene alleles and is known to affect all vertebrates, including humans. While an organism with complete absence of melanin is called an albino (
/ælˈbaɪnoʊ/,[1] or /ælˈbiːnoʊ/),[2] an organism with only a diminished amount of melanin is described as albinoid.[3]
Albinism is associated with a number of vision defects, such as photophobia, nystagmus and astigmatism. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers.
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Contents
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In humans, there are two principal types of albinism, oculocutaneous, affecting the eyes, skin and hair, and ocular affecting the eyes only.
Most oculocutaenous albinistic humans appear white or very pale as the melanin pigments responsible for brown, black, and some yellow colorations are not present. Ocular albinism results in pale blue eyes, and may require genetic testing to diagnose.
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 overexposure.[4]
The human eye normally produces enough pigment to color the iris blue and lend opacity to the eye. However, there are cases in which the eyes of an albinistic person appear red or purple, depending on the amount of pigment present, 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 photosensitivity.
The albinistic 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,[5] although the lack of pigment increases the risk of skin cancer and other problems.
Development of the optical system is highly dependent on the presence of melanin, and the reduction or absence of this pigment in albinistic individuals may lead to
Eye conditions common in albinism include:
Some of the visual problems 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.
The iris is a sphincter formed from pigmented tissue that contracts when the eye is exposed to bright light, to protect the retina by limiting the amount of light passing through the pupil. In low light conditions the iris relaxes to allow more light to enter the eye. In albinistic subjects, the iris does not have enough pigment to block the light, thus the decrease in pupil diameter is only partially successful in reducing the amount of light entering 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.[8] The resulting sensitivity (photophobia) generally leads to discomfort in bright light, but this can be reduced by the use of sunglasses and/or brimmed hats.[9]
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.[5][10]
The chance of offspring with albinism resulting from the pairing of an organism with albinism and one without albinism is low. 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 sexes.[5] 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.[11]
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.
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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.
For the most part, treatment of the eye conditions consists of visual rehabilitation. Surgery is possible on the ocular muscles to decrease nystagmus, strabismus and common refractive errors like astigmatism.[4] Nystagmus-damping surgery can also be performed, to reduce the "shaking" of the eyes back and forth.[12] The effectiveness of all these procedures varies greatly and depends on individual circumstances.
Glasses and other vision aids, large-print materials as well as bright but angled reading lights, can help individuals with albinism, even though their vision cannot be corrected completely. Some people with Albinism do well using bifocals (with a strong reading lens), prescription reading glasses, and/or hand-held devices such as magnifiers or monoculars.[9] Contact lenses may be colored to block light transmission through the iris. But in case of nystagmus this is not possible, due to the irritation that is caused by the movement of the eyes. 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".)
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.[13]
In physical terms, humans with albinism commonly have visual problems and need sun protection. But they also face social and cultural challenges (even threats), as the condition is often a source of ridicule, discrimination, or even fear and violence. Cultures around the world have developed many beliefs regarding people with albinism.
In African countries such as Tanzania[14] and Burundi,[15][16] there has been an unprecedented rise in witchcraft-related killings of albino people 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.[17][18][19][20] 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.[21] Again in Tanzania and Burundi in 2010, the murder and dismemberment of a kidnapped albino child was reported from the courts,[15] as part of a continuing problem.
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 HIV infection).[22]
Certain ethnic groups and insular areas exhibit heightened susceptibility to albinism, presumably due to genetic factors. These include notably the Native American Kuna and Zuni nations (respectively of Panama and New Mexico); Japan, in which one particular form of albinism is unusually common; and Ukerewe Island, the population of which shows a very high incidence of albinism.[23]
Famous people with albinism include historical figures such as Emperor Seinei of Japan, Oxford don William Archibald Spooner; actor-comedian Victor Varnado; musicians such as Johnny and Edgar Winter, Salif Keita, Winston "Yellowman" Foster, Brother Ali, Sivuca, Willie "Piano Red" Perryman; and fashion models Connie Chiu and Shaun Ross.
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.[24][25] However the novelty of albino animals has occasionally led to their protection by groups such as the Albino Squirrel Preservation Society.
In partial albinism there can be a single patch or patches of skin that lack melanin. Especially in 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), because of the presence of other pigments unaffected by albinism such as porphyrins, pteridines and psittacins, as well as carotenoid pigments derived from the diet.
In some animals albinism-like conditions may affect other pigments or pigment-production mechanisms:
Intentionally bred albinistic strains of some animal species are commonly used as model organisms in biomedical study and experimentation, although some researchers have argued that they are not always the best choice.[29] Examples include the BALB/c mouse and Wistar and Sprague Dawley rat strains, while albino rabbits were historically used for Draize toxicity testing.[30] 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 (arsenic, cadmium, copper, mercury, selenium, zinc).[31]
The eyes of an albino animal appear red because the colour of the red blood cells in the underlying retinal blood vessels shows through where there is no pigment to obscure it.
Famous albino animals include Migaloo, a humpback whale off the coast of Australia; Pinky, a bottlenose dolphin living in and around in Calcasieu Lake, Louisiana; Snowflake, a Barcelona Zoo gorilla; Snowflake, a Bristol Zoo penguin; and Mahpiya Ska (Sioux for "White Cloud"), a buffalo in Jamestown, North Dakota.[32] The inspiration for Herman Melville's novel Moby-Dick was a sperm whale known as Mocha Dick.
Albino Red-necked Wallaby
Albino Wistar rat, a strain commonly used for both biomedical and basic research.
Albino deer
Albino American Alligator
European Mole (Talpa europaea Linnaeus, 1758)
An Albino Kookaburra
Common and albinotic colour forms of land snail Pseudofusulus varians
Albino freshwater snail Biomphalaria glabrata. All snails in the family Planorbidae have the red oxygen transport pigment haemoglobin, but this is especially apparent in albino animals.
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