Achromatosis

"Albino" redirects here. See Albino (multiple choice) for other uses.

See albinism (from Latin albus, "white"); see extended etymology, it is also called acromia, achromasia, or achromatosis (chromosomes), the lack of or lack of enzymes involved in the production of melanin Because of this, there is an innate disorder marked by the whole or partial absence of pigment or color in the skin, hair and eyes. Albinism is the result of inheriting gene alleles in hereditary manner and it affects all the vertebrates, including humans. The most commonly used term for albinism is the "albinism" for the survivors affected. Sometimes the words "albinoid" and "albinic" are used to refer to animals under additional clinical adjectives.

Albinism is associated with many visual defects, such as photophobia (light intolerance), nystagrams (nystagmus) and astigmatism (astigmatism). In the absence of skin pigmentation, living beings are more prone to sunburn and skin cancer.

Classification in humans

There are two main categories of albinism in humans:

Other conditions include albinism as part of their appearance. These include Harmanski-Pudal syndrome, Chediac-Higashi syndrome, GriSelli syndrome, Wardenberg syndrome and Tietze syndrome. These conditions are sometimes classified with albinism. Many have subtypes. Some are easily identified by their appearance, but in most cases genetic testing is the only way to accurately identify.

Albinism was first classified as a tireless-positive or negative. In cases of tyrosinase-positive albinism, enzyme tyrosinase is present. Melanocytes (pigment cell) are unable to produce melanin for any of the different reasons, which do not directly involve the tyrosine enzyme. In cases related to tyrosecin-negative, either the tyrosine enzyme is not formed or its non-functional form is formed. This classification has become obsolete in recent research. Signs and symptoms Albinistic girl of Papua New Guinea Most pigmented humans appear white or very yellow because melanin pigments responsible for brown, black and some yellow colors do not exist.

Because people with albinism have a partial or completely dark pigmentation of melanin in the skin, which helps protect the skin from ultraviolet radiation, hence their skin is highly exposed to sun rays. It can burn easily on arrival.

In the human eye, enough pigment is usually made to provide iris and the eye receives opacity. However, there are some cases where the eyes of an albinistic person appear red or purple, depending on the amount of pigment present in them. Due to the absence of pigment or pigment in the eyes, problems related to photosensitivity and unrelated vision begin to arise.

Albinistic organisms are usually healthy like other organisms (but refer to the related disorders shown below) and they have growth and development related functions normally and do not die due to albinism itself, although the pigment Due to the lack of skin cancer and other problems, the risk is increased. Visual problems

The development of optical systems largely depends on the presence of melanin and due to the absence or absence of this pigment in albinistic organisms, the following problems can arise:

The conditions of the eye commonly seen in albinism include:

Due to the lack of melanin due to poorly developed retinal pigment epithelium (RPE), some visual problems associated with albinism arise. Due to this distorted RPE, the result of foveal hypoplasia (failure to develop normal fovea) has to be the result, resulting in accentic fixation (eccentric stabilization) and low visual acuity and often a small scale result of diarrhea.

Iris is a sphincter made of pigment tissue, which is contracted to protect the retina by limiting the amount of light passing through the pupil and contracts on the arrival of the eye in contact with bright light. In less light conditions, the iris becomes loose to allow more light to enter the eye. In albinistic subjects, iris do not have enough dyes to prevent light, so that reduction in the diameter of the pupil is only partially able to reduce the amount of light entering the eye. In addition, improper development of RPE which absorbs mostly reflected sunlight in normal eyes, increases the brightness due to the dispersion of light within the eye. The resultant sensitivity (photophobia) usually results in uneasiness in bright light, but it can be reduced by using sunglasses and / or edged hats. Genetics

Most of the form of albinism is the result of the biological heritage of genetic resuscitation alleles (genes) passing through a person's two parents, although some rare form is inherited from only one parent or father. There are some other genetic mutations that have proved to be related to albinism. However, changes in the production of melanin in the body are the result of all the changes.

The possibility of the origin of albinism affected by a pair of albinism-resistant or albinisms is less likely. However, since organisms can be carriers of genes for albinism without performing any symptoms, so albinistic children can be born by non-albinistic parents. Albinism usually occurs with the same frequency in both sexes. An exception to this is the ocular albinism that goes through the X-linked heritage to the offspring. Thus, ocular albinism occurs mostly in men because there is only one X and Y chromosome whereas women have two X chromosomes.

There are two different forms of albinism; The complete absence of hypomalenism or hypomalenosis and melanin is known as amelanism or amelenosis due to partial absence of melanin. Diagnosis

Genetic testing may confirm alabnism and its variation but there is no other clinical benefit other than non-OCA disorders (see below), due to which other medical problems There is also albinism that can be cured. The symptoms of albinism can be cured through various methods described below. the treatment

Most visual rehabilitation involves the treatment of eye related problems. Surgery is possible on ocular muscles to reduce nystagmus, strabismus and general refractive errors such as estagmatism. Strabismus surgery can improve the appearance of the eyes. Neastagams-dumping surgery can also be done to reduce the problem of "moving" back and forth of the eyes. The efficacy of all these processes varies greatly and depends on the individual circumstances. More importantly, since a normal RPE or FOVIA can not be restored from surgery, so surgery can not get better binocular vision. In the case of esotropia ("crossed eyes" form of strabismus), surgery can help in sight by expanding the visible area (the area in which the eye can see during viewing at any one point).

Eyebrows and other vision aids, printed materials in large print and CCTV, as well as bright but slant reading light can help people with albinism, although their vision can not be completely cured. Could. People with some albinism can use a magnifier or monocular (an ultra-simple telescope) to see the bifocals (with a strong reading lens), prescription reading glass and / or hand-held devices. Contact lenses can be painted to block the transmission of light through the iris. But in the case of nystagmus it is not possible to do this because of the burning sensation due to the movements of the eyes. Some bicycles use eyeglasses, where on their regular lenses there are small telescopes in or in which they can be seen either through regular lenses or through a telescope. In the new designs of bioptics, small and light lenses are used. Some US states allow the use of bio-optic telescopes to run motor vehicles. ( NOAA bulletin "Low visual aids").

Although still subject to dispute among experts, many ophthalmologists (eye ophthalmologists) recommend using eyeglasses right from childhood in terms of the best possible development of eyes. Epidemiology (epidemiology)

Albinism has the effect of all race people, and in humans it is estimated to be approximately 1 in every 20,000 according to the frequency of its occurrence. Society and culture मुख्य लेख : Persecution of people with albinism और Albinism in popular culture Albino Pride Parade of Afro-Brazilians during Bahia Carnival

People with albinism in a physical way usually have vision related problems and need sun protection. But they also face social and cultural challenges (and also of the dangers) because their condition often gets ridiculed, causes discrimination, or even from the point of view of fear and violence. A variety of beliefs have been developed about people living in Albinism in cultures around the world. This folk literature includes harmless myths and dangerous superstitions, which affect human life. Expectations of cultural challenges can be mostly done in areas where the number of people with yellow skin and light hair is higher than the average phenotype of the ethnic minority.

In recent years, African countries such as Tanzania and Burundi have seen phenomenal growth in the killings related to magic in Albinians. The reason for this is that the body parts of the albino are used in the medicines sold by the practitioners. During the twenty-first century, many authenticated incidents have occurred in Africa. For example, in Tanzania, in September 2009, three people were accused of selling a fourteen year old Albinova child and cutting her leg to sell for the purposes of magical purposes. As part of an ongoing problem in Tanzania and Burundi in 2010, the news of the murder and amputation of a hijacked albino child has been reported from the courts.

Other examples: Sex with an albinistic woman in Zimbabwe has resulted in crimes such as rape (and then HIV infection) after the belief that the person suffering from HIV has been cured.

Some ethnic groups and insular areas have probably seen highly susceptibility to albinism due to genetic factors (reinforced by cultural traditions). This includes notably the Native American Kuna and Juni Nation (from Panama and New Mexico, respectively); Japan, in which a particular form of albinism is unusually common; And on the island of Eukeriv, where there is a very high incidence of the occurrence of albinism in people.

People with many albinism have also been famous, including some of the most celebrated celebrities like Japan's Emperor Seinei and Oxford Don William Archibald Spooner; Actor-Comedian Victor Vernado; Musicians such as Johnny and Edgar Winter, Salif Keita, Winston "Yellowman" Foster, Brother Ali, Sevuka, Willie "Piano Red" Periman; And fashion model Connie Chiu.

Some albino animals have also been famous, including a humpback whale named Migolulu of Australia; A gorilla named Snowflack from Barcelona's Zoo; A penguin named Snodrop of Bristol Zoo; A pink dolphin from Louisiana; And an albino buffalo, known as Mahpiya ska of Jamtown, ND, is White Cube's Sioux; And sperm whale Mocha Dick, which is the inspiration source for Herman Melville's novel Moby-Dick. Among other animals

Many animals suffering from albinism lack defensive camouflage, due to which they are unable to hide themselves from their predators or prey; The possibility of survival of albinism in animals is very low in the wild. However, considering the singularity of the albino animals, he has received protection from groups such as the Albino Squaleral Preservation Society from time to time.

Partial albinism has only one or more spots on the skin, which lacks melanin. Especially in albinistic birds and reptiles, red and yellow or other colors may exist on their whole body or in spots (as do pigeons generally see), because the presence of other pigments is the cause of Albinism , Such as aphids, pteridins and cetaceins as well as carotenoid pigments produced from food.

In some animals the effects of albinism may be affected by other pigments or pigmentation processes:

Deliberately produced albinistic breeds from some animal species are commonly used in biological therapeutic studies and in the use of model organisms, although some researchers argue that they are not always the best choice. Examples include BALB / C rat and breed of breeder and sprig dowl rat, while albino rabbits used to be historically used for dredging toxicity test. Yellow mutation in fruit flies is their albinism.

The phenomenon of albinism in fish can be artificially enhanced by bringing exposure to heavy metals (arsenic, cadmium, copper, mercury, selenium, zinc).

The eyes of the albino animal appear red, because the color of red blood cells in the underlying retinal blood vessels appears through there, where there is no pigment to make it obscure. Also see them External episodes

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