Understanding Albinism.docx

Understanding Albinism Humans, animals, and even plants can have albinism, a condition that gives people a kind of pale appearance. But what is albinism and what causes it? Albinism is a genetic condition where people are born without the usual pigment (color) in their bodies. Their bodies aren't able to make a normal amount of melanin, the chemical that is responsible for eye, skin, and hair color. So most people with albinism have very pale skin, hair, and eyes. Albinism can affect people of all races, and there are different kinds of albinism. Some people with a condition called oculocutaneous albinism have extremely pale skin and eyes, and white hair. Others with this same type of albinism might have slightly more color in their hair, eyes, or skin. For some people, albinism affects only their eyes. This is known as ocular albinism. People with ocular albinism usually have blue eyes. In some cases, the iris (the colored part of the eye) has very little color so a person's eyes might look pink or reddish. This is caused by the blood vessels inside the eye showing through the iris. In some forms of ocular albinism, the hearing nerves hearing may be affected and the person may develop hearing problems or deafness over time. Except for eye problems, most people with albinism are just as healthy as anyone else. In very rare cases a person's albinism is part of another condition that involves other health problems in addition to albinism. People with these types of albinism can have such health complications as bleeding, lung, bowel, and immune system problems.

Eyesight and Albinism People with albinism often have trouble with their eyesight. They may wear glasses or contact lenses to help correct problems like nearsightedness, farsightedness, or astigmatism. Others might need eye surgery. Just as there are different degrees of albinism there are also different levels of eye problems for a person who has the condition. Albinism does not make a person completely blind. Although some people with albinism are "legally blind," that doesn't mean they have lost their vision completely. They can still read and study — they just may need larger print or magnifiers to help them. People with albinism can be very sensitive to light because the iris doesn't have enough color to shield the retina properly. Wearing sunglasses or tinted contact lenses can help make them more comfortable out in the sun.

Skin Precautions Besides giving skin, eyes, and hair their color, melanin helps protect our skin from the sun. It does this by causing skin to tan instead of burn — which is why people with darker skin (more melanin) are less likely to burn than people with lighter skin. So people with albinism can sunburn very easily. People with light skin are also particularly at risk for skin cancer. So it's important for people with albinism to use a sunscreen with a high SPF factor at all times and to wear clothing that offers protection from the sun, such as hats, dark-colored clothing, or long pants and long-sleeved shirts.

What Causes Albinism? Albinism is inherited. It's not contagious — you can't "catch" it from someone else. People are born with albinism because they inherit an albinism gene or genes from their parents. In the most common forms of oculocutaneous albinism, both parents must carry the albinism gene for a child to be born with the condition. Even if both parents carry the gene, the chance of each of their children being born with albinism is one in four. If just one parent has the gene and the other parent has a normal pigment gene, their children won't have oculocutaneous albinism. But each child will have a one in two chance of being a "carrier" of an albinism gene. If a child who carries the gene grows up to have a baby with someone who also does, there's a one in four chance that their baby may have albinism. Since most people who carry an albinism gene don't show any signs of the condition, a baby with albinism can be born to parents whose coloring is typical for people of their ethnic group. The most common form of ocular albinism affects only males who have inherited an albinism gene from their mothers. Some females can have a milder form of the condition if they have inherited this gene.

How Is It Treated? Because most people with albinism don't have health problems, treatment — apart from vision care — isn't usually necessary. But they do need to take certain precautions, such as wearing sunglasses and sunscreen when outdoors. Albinism can't be "cured." But it only rarely leads to serious health problems. When health problems are serious, doctors usually can treat the symptoms.

What's Life Like for Teens With Albinism? People with albinism are just like anyone else, with the same lifespan and ability to reach their goals. But living with any medical condition during the teen years can be difficult, and albinism is no exception. Because the social scene can be more about fitting in than standing out, teens with albinism may face bullying or prejudice. Voicing any frustration or sadness to a family member or friend who understands can help. So can talking to a counselor or therapist to get ideas on coping with the challenges that come up during the teen years. Reviewed by: Steven Dowshen, MD Date reviewed: April 2014

https://kidshealth.org/en/teens/albinism.html

Albinism 

Types

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Causes

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Risk factors

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Symptoms

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Diagnosis

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Treatment

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Outlook

What is albinism? Albinism is a rare group of genetic disorders that cause the skin, hair, or eyes to have little or no color. Albinism is also associated with vision problems. According to the National Organization for Albinism and Hypopigmentation, about 1 in 18,000 to 20,000 people in the United States have a form of albinism.

What are the types of albinism? Different gene defects characterize the numerous types of albinism. Types of albinism include:

Oculocutaneous albinism (OCA) OCA affects the skin, hair, and eyes. There are several subtypes of OCA: OCA1 OCA1 is due to a defect in the tyrosinase enzyme. There are two subtypes of OCA1: 

OCA1a. People with OCA1a have a complete absence of melanin. This is the pigment that gives skin, eyes, and hair their coloring. People with this subtype have white hair, very pale skin, and light eyes.

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OCA1b. People with OCA1b produce some melanin. They have lightcolored skin, hair, and eyes. Their coloring may increase as they age.

OCA2 OCA2 is less severe than OCA1. It’s due to a defect in the OCA2 gene that results in reduced melanin production. People with OCA2 are born with light coloring and skin. Their hair may be yellow, blond, or light brown. OCA2 is most common in people of African descent and Native Americans. OCA3 OCA3 is a defect in the TYRP1 gene. It usually affects people with dark skin, particularly black South Africans. People with OCA3 have reddish-brown skin, reddish hair, and hazel or brown eyes. OCA4 OCA4 is due to a defect in the SLC45A2 protein. It results in a minimal production of melanin and commonly appears in people of East Asian descent. People with OCA4 have symptoms similar to those in people with OCA2.

Ocular albinism Ocular albinism is the result of a gene mutation on the X chromosome and occurs almost exclusively in males. This type of albinism only affects the eyes. People with this type have normal hair, skin, and eye coloring, but have no coloring in the retina (the back of the eye).

Hermansky-Pudlak syndrome This syndrome is a rare form of albinism that’s due to a defect in one of eight genes. It produces symptoms similar to OCA. The syndrome occurs with lung, bowel, and bleeding disorders.

Chediak-Higashi syndrome Chediak-Higashi syndrome is another rare form of albinism that’s the result of a defect in the LYST gene. It produces symptoms similar to OCA, but may not affect all areas of the skin. Hair is usually brown or blond with a silvery sheen. The skin is usually creamy white to grayish. People with this syndrome have a defect in the white blood cells, increasing their risk of infections.

Griscelli syndrome Griscelli syndrome is an extremely rare genetic disorder. It’s due to a defect in one of three genes. There only have been 60 known cases of this syndrome worldwide since 1978. It occurs with albinism (but may not affect the entire body), immune problems, and neurological problems. Griscelli syndrome usually results in death within the first decade of life.

What causes albinism? A defect in one of several genes that produce or distribute melanin causes albinism. The defect may result in the absence of melanin production, or a reduced amount of melanin production. The defective gene passes down from both parents to the child and leads to albinism.

Who’s at risk for albinism? Albinism is an inherited disorder that’s present at birth. Children are at risk of being born with albinism if they have parents with albinism, or parents who carry the gene for albinism.

What are the symptoms of albinism? People with albinism will have the following symptoms: 

an absence of color in the hair, skin, or eyes

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lighter than normal coloring of the hair, skin, or eyes

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patches of skin that have an absence of color

Albinism occurs with vision problems, which may include: 

strabismus (crossed eyes)

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photophobia (sensitivity to light)

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nystagmus (involuntary rapid eye movements)

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impaired vision or blindness

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astigmatism

How is albinism diagnosed? The most accurate way to diagnose albinism is through genetic testing to detect defective genes related to albinism. Less accurate ways of detecting albinism include an evaluation of symptoms by your doctor or an electroretinogram test. This test measures the response of the lightsensitive cells in the eyes to reveal eye problems associated with albinism.

What are the treatments for albinism? There’s no cure for albinism. However, treatment can relieve symptoms and prevent sun damage. Treatment may include: 

sunglasses to protect the eyes from the sun’s ultraviolet (UV) rays

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protective clothing and sunscreen to protect the skin from UV rays

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prescription eyeglasses to correct vision problems

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surgery on the muscles of the eyes to correct abnormal eye movements

What’s the long-term outlook? Most forms of albinism don’t affect life span. Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, and Griscelli syndrome do affect life span, however. This is because of the health problems associated with the syndromes. People with albinism may have to limit their outdoor activities because their skin and eyes are sensitive to the sun. UV rays from the sun can cause skin cancer and vision loss in some people with albinism. https://www.healthline.com/health/albinism#outlook

Have you ever heard the word albino? It's a word that's sometimes used to describe a condition called albinism (say: AL-buh-nih-zum). Humans, animals, and even plants can have this condition, which means that the person, animal, or plant doesn't have the usual amount of pigment, or color. You might know that albinism causes a kind of pale appearance. But what exactly causes albinism?

Understanding Albinism To understand albinism, you need to first know about melanin (say: MEL-uh-nin). Melanin is a chemical in our bodies that colors our skin, eyes, and hair. It's made by melanocytes (say: muh-LAHnuh-sytes), which are cells found in the bottom layer of your skin. Sometimes, a kid or an animal might be born whose body can't make a normal amount of melanin. This is what happens with albinism, which can show up as a lack of pigment (color) in the skin, eyes, hair, fur, or feathers of that kid or animal. There are different kinds of albinism. Some kids with albinism might have pale skin or hair. Other types of albinism might affect only the eyes. Most kids with albinism have blue eyes, and others have brownish eyes. In some cases of albinism, a kid's eyes might appear pink or reddish. This isn't because the iris (the colored part of the eye) is pink or red. It's because the iris actually has very little color. The eyes appear pink or red because the blood vessels inside of the eye (on the retina) show through the iris.

Stay in the Shade Besides giving your skin, eyes, and hair its color, melanin helps protect your skin from the sun. You know how a person's skin gets darker after hanging out at the beach? That's your melanin at work, darkening your skin to give it more protection from the sun's rays. So, without enough melanin, your skin won't be able to protect itself. Kids with albinism can get sunburned very easily. That's why it's a good idea for anyone with albinism to stay covered while in the sun (or even to stay out of the sun completely). Kids with albinism can go to the beach and spend time outdoors, but they have to use lots of sunscreen and watch the amount of time they're soaking up rays. Kids with albinism should talk to their doctors to find out whether it's OK to spend any time in the sun.

Vision Problems Some kids with albinism wear glasses or contact lenses to help them see better. Others might need eye surgery. An eye doctor can help figure out ways to help a person with albinism see better.

Another problem for kids with albinism is that their eyes can be very sensitive to light. The iris usually helps control the amount of light coming into your eye and hitting your retina, which is located at the back of your eyeball. When a person has albinism, the iris doesn't have enough color and can't properly shield the retina from light. So, kids with albinism often squint in bright light. Wearing sunglasses or tinted contact lenses can help make a kid with albinism more comfortable out in the sun.

What Causes It? You can't "catch" albinism, like you catch a cold or the flu. It's caused by a person's genes. You might have learned about genes in science class, but what exactly are they? Everyone's body is made up of billions of cells, which are too small to see without a strong microscope. Inside these cells are things called chromosomes, which contain hundreds, or even thousands, of genes. These genes give us our physical traits — how we look — and lots of other stuff about us, like the instructions our body parts need to work properly. Genes carry the information that makes you an individual. Genes tell your body whether to give you curly or straight hair, long or short legs, or even brown or blue eyes. You might have heard people say you have eyes like your mom, hair like your dad, a smile like your grandma, or a laugh like your grandpa. Why? Because they passed some of their genes on to you! Everyone has two sets of genes. Half of your genes are from your dad, and half are from your mom. Sometimes, a mom and a dad might carry an "albinism gene" but not show any signs of albinism themselves. But they might have a kid who has albinism. How can that be? Well, this happens because each parent has a normal pigment gene and an albinism gene. For a kid to have albinism, the dad's albinism gene and the mom's albinism gene both have to get passed on to the kid. But if a kid gets an albinism gene from one parent and a normal pigment gene from the other, the kid won't have albinism. Instead, the kid will be a "carrier" of an albinism gene — which means he or she would have one normal pigment gene and one albinism gene. So, if that kid grows up and has a child with someone who is also a carrier of an albinism gene, there would be a chance that their child might have albinism. So what about kids with light skin and light hair . . . or animals with white fur or feathers? Do they have albinism? Not necessarily. Their genes may tell them to be light-skinned or fair-haired, like their

mom or dad. Likewise, not all animals with white fur or feathers have albinism. Polar bears, for instance, have genes that tell them to be white.

What's Life Like for Someone With Albinism? Kids with albinism are just like other kids — they just need to talk with their doctor about taking care of their eyes and skin, especially if they're going to be in the sun. And albinism doesn't stop kids from reaching their goals. Lots of kids with albinism have grown up to be doctors, lawyers, musicians, and athletes. Most kids with albinism can be anything they want to be, just like any other kid! Reviewed by: Steven Dowshen, MD Date reviewed: April 2014

https://kidshealth.org/en/kids/albinism.html

Albinism From Wikipedia, the free encyclopedia

Jump to navigationJump to search "Albino" redirects here. For an overview, see Albinism in biology. For other uses, see Albino (disambiguation). It has been requested that the title of this article be changed to Albinism in humans. Please see the relevant discussion on the discussion page. Do not move the page until the discussion has reached consensus for the change and is closed.

Albinism Synonyms

Achromia, achromasia, achromatosis

A boy with albinism

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Pronunciation

albino (UK: /ælˈbiːnoʊ/,[1], UK: /ælˈbiːnoʊ/,[2] or US: /ælˈbaɪno ʊ/)[3]

Specialty

Dermatology

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.[4] 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.[5] 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.[6] The term is from the Latin albus, "white". Contents [hide]

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1Signs and symptoms

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o 1.1Visual problems 2Genetics o 2.1Enzyme o 2.2Evolutionary theories 3Diagnosis 4Treatment 5Epidemiology 6Society and culture o 6.1Persecution of people with albinism o 6.2Albinism in popular culture o 6.3International Albinism Awareness Day 7Other organisms 8See also 9References 10External links

Signs and symptoms[edit]

Albino girl from Papua New Guinea

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 dark-skinned people".[7] 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 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."[8] 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.[9] 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 photosensitivity. 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,[10] although the lack of pigment blocking ultraviolet radiation increases the risk of melanomas (skin cancers) and other problems.

Visual problems[edit]

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:  

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Misrouting of the retinogeniculate projections, resulting in abnormal decussation (crossing) of optic nerve fibres[9] Photophobia and decreased visual acuity due to light scattering within the eye (ocular straylight)[9][11] Photophobia is specifically when light enters the eye, unrestricted—with full force. It is painful and causes extreme sensitivity to light.[12][unreliable source] Reduced visual acuity due to foveal hypoplasia and possibly light-induced retinal damage.[9]

Eye conditions common in albinism include:   

Nystagmus, irregular rapid movement of the eyes back and forth, or in circular motion.[9] Amblyopia, decrease in acuity of one or both eyes due to poor transmission to the brain, often due to other conditions such as strabismus.[9] 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.[13] The resulting sensitivity (photophobia) generally leads to discomfort in bright light, but this can be reduced by the use of sunglasses or brimmed hats.[14]

Genetics[edit] 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″.[15] 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.[10][16] Some of these are associated with increased risk of skin cancer (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.[10] 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.[17] 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.

Enzyme[edit] The enzyme defect responsible for OCA1-type albinism is tyrosine 3-monooxygenase (tyrosinase), which synthesizes melanin from the amino acid tyrosine.

Evolutionary theories[edit] It is suggested that the early hominin evolved in East Africa around 3 million years ago.[18] 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 nonpigmented, 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 eumelaninproducing 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 Dformation in the skin of people with less melanin, or simply natural selection due to mate preference and sexual selection.[18] 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.[18] 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.[19] 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.[19]

Diagnosis[edit] This section needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. (November 2007) (Learn how and when to remove this

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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.

Treatment[edit] 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.[9] Nystagmus-damping surgery can also be performed, to reduce the "shaking" of the eyes back and forth.[20] The effectiveness of all these procedures varies greatly and depends on individual circumstances. 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.[14][21] 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 Organization for Albinism and Hypopigmentation was set up to provide a network of resources and information.

Epidemiology[edit] 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.[22] Certain ethnic groups and populations in isolated areas exhibit heightened susceptibility to albinism, presumably due to genetic factors. These include notably the Native AmericanKuna, 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 albinism.[23]

Society and culture[edit] In physical terms, humans with albinism commonly have visual problems and need sun protection.

Persecution of people with albinism[edit] 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".[24] Many cultures around the world have developed beliefs regarding people with albinism. In African countries such as Tanzania[25] and Burundi,[26][27] 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.[28] Numerous authenticated incidents have occurred in Africa during the 21st century.[29][30][31][32] 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.[33] Again in Tanzania and Burundi in 2010, the murder and dismemberment of a kidnapped albino child was reported from the courts,[26] as part of a continuing problem. The US-based National Geographic Societyestimated that in Tanzania a complete set of albino body parts is worth US$75,000.[34][35] 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).[36]

Albinism in popular culture[edit] Main article: 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.

International Albinism Awareness Day[edit] International 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 International Albinism Awareness Day.[37] 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 very first Independent Expert on the enjoyment of human rights by persons with albinism.[38]

https://en.wikipedia.org/wiki/Albinism

Information Bulletin – What is albinism? Albinism is an inherited genetic condition that reduces the amount of melanin pigment formed in the skin, hair and/or eyes. Albinism occurs in all racial and ethnic groups throughout the world. In the U.S., approximately one in 18,000 to 20,000 people has some type of albinism. In other parts of the world, the occurrence can be as high as one in 3,000. Most children with albinism are born to parents who have normal hair and eye color for their

ethnic backgrounds.

A common myth is that people with albinism have red eyes. Although lighting conditions can allow the blood vessels at the back of the eye to be seen, which can cause the eyes to look reddish or violet, most people with albinism have blue eyes, and some have hazel or brown eyes. There are different types of albinism and the amount of pigment in the eyes varies; however, vision problems are associated with albinism.

Vision Considerations People with albinism have vision problems that are not correctable with eyeglasses, and many have low vision. It’s the abnormal development of the retina and abnormal patterns of nerve connections between the eye and the brain that cause vision problems. The presence of these eye problems defines the diagnosis of albinism. The degree of impairment varies with the different types of albinism. Although people with albinism may be considered “legally blind” with a corrected visual acuity of 20/200 or worse, most learn to use their vision in a variety of ways and are able to perform innumerable activities such as reading, riding a bike or fishing. Some have sufficient vision to drive a car.

Dermatological Considerations Because most people with albinism have fair complexions, it’s important to avoid sun damage to the skin and eyes by taking precautions such as wearing sunscreen or sunblock, hats, sunglasses and sun-protective clothing.

Types of Albinism While most people with albinism have very light skin and hair, levels of pigmentation can vary depending on one’s type of albinism. Oculocutaneous (pronounced ock-you-low-kew-TAIN-ee-

us) albinism (OCA) involves the eyes, hair and skin. Ocular albinism (OA), which is much less common, involves only the eyes, while skin and hair may appear similar or slightly lighter than that of other family members. Over the years, researchers have used various systems for classifying oculocutaneous albinism. In general, these systems contrasted types of albinism having almost no pigmentation with types having slight pigmentation. In less pigmented types of albinism, hair and skin are cream-colored and vision is often in the range of 20/200. In types with slight pigmentation, hair appears more yellow or has a reddish tinge and vision may be better. Recent research has used analysis of DNA, the chemical that encodes genetic information, to arrive at a more precise classification system for albinism. Seven forms of oculocutaneous albinism are now recognized – OCA1, OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7. Some are further divided into subtypes. • OCA1, or tyrosinase-related albinism, results from a genetic defect in an enzyme called tyrosinase. This enzyme helps the body to change the amino acid, tyrosine, into pigment. (An amino acid is a “building block” of protein.) There are two subtypes of OCA1. In OCA1A, the enzyme is inactive and no melanin is produced, leading to white hair and very light skin. In OCA1B, the enzyme is minimally active and a small amount of melanin is produced, leading to hair that may darken to blond, yellow/orange or even light brown, as well as slightly more pigment in the skin. • OCA2, or P gene albinism, results from a genetic defect in the P protein that helps the tyrosinase enzyme to function. People with OCA2 make a minimal amount of melanin pigment and can have hair color ranging from very light blond to brown. • OCA3 is rarely described and results from a genetic defect in TYRP1, a protein related to tyrosinase. People with OCA3 can have substantial pigment. • OCA4 results from a genetic defect in the SLC45A2 protein that helps the tyrosinase enzyme to function. People with OCA4 make a minimal amount of melanin pigment similar to people with

OCA2. • OCA5–7 were recognized in humans in 2012 and 2013. They have reported mutations on three additional causative genes. As gene testing becomes available, and more people with these types of albinism are identified, the complete range of physical manifestations will be recognized, and may overlap with other known types of OCA. Currently, these types of albinism are considered to be uncommon. Researchers have also identified several other genes that result in albinism with other features. One group includes at least 10 genes leading to Hermansky-Pudlak Syndrome (HPS). In addition to albinism, HPS is associated with bleeding problems and bruising. Some forms are also associated with lung and bowel disease. HPS is a less common form of albinism but should be suspected if a person with albinism shows unusual bruising or bleeding or if a genetic test for a type of OCA produces inconclusive results. Other albinism-related syndromes include Chediak-Higashi Syndrome and Griscelli Syndrome.

Genetics of Albinism The genes for OCA are located on “autosomal” chromosomes. Autosomes are the 22 pairs of chromosomes that contain genes for our general body characteristics, compared to the one pair of sex chromosomes. We normally have two copies of these chromosomes and the many genes on them – one inherited from our father, the other inherited from our mother. For a recessive trait (like most types of albinism) to occur, both of the person’s chromosomes must carry that trait. That means that most types of albinism result from inheriting an albinism trait from both the mother and the father who often have normal pigmentation. In this case, the mother and father are considered to be carriers of the albinism trait because they each carry a recessive gene for the condition but do not manifest the condition themselves. When both parents carry the albinism gene (and neither parent has albinism) there is a one in four chance at each pregnancy that the baby will be born with albinism. This type of inheritance is called

“autosomal recessive” inheritance. Ocular albinism (OA1) is caused by a change in the GPR143 gene that plays a signaling role that is especially important to pigmentation in the eye. OA1 follows a simpler pattern of inheritance because the gene for OA1 is on the X chromosome. Females have two copies of the X chromosome while males have only one copy (and a Y chromosome that makes them male). To have ocular albinism, a male only needs to inherit one changed copy of the gene for ocular albinism from his carrier mother. Therefore almost all of the people with OA1 are males. Parents should be suspicious if a female child is said to have ocular albinism. While possible if the mother is a carrier of ocular albinism and the father has ocular albinism, it is extremely rare. For couples who have not had a child with albinism, there is no simple test to determine whether a person carries a gene for albinism. Researchers have analyzed the DNA of many people with albinism and found the changes that cause albinism, but these changes are not always in exactly the same place, even for a given type of albinism. Moreover, many of the tests do not find all possible changes. Therefore, the tests for the albinism gene may be inconclusive. If parents have had a child with albinism previously, and if that affected child has had a confirmed diagnosis by DNA analysis, there is a way to test in subsequent pregnancies to see if the fetus has albinism. The test uses either amniocentesis (placing a needle into the uterus to draw off fluid) or chorionic villous sampling (CVS). Cells in the fluid are examined to see if they have an albinism gene from each parent. For specific information and genetic testing, seek the advice of a qualified geneticist or genetic counselor. The American College of Medical Genetics and the National Society of Genetic Counselors maintain a referral list. Those considering prenatal testing should be made aware that people with albinism usually adapt quite well to their disabilities and lead very fulfilling lives.

Vision Rehabilitation

Eye problems in albinism result from the abnormal development of the eye because of a lack of pigment and often include: • Nystagmus: Regular horizontal back and forth movement of the eyes • Strabismus: Muscle imbalance of the eyes, “crossed eyes” (esotropia), “lazy eye” or an eye that deviates out (exotropia) • Photophobia: Sensitivity to bright light and glare • Refractive Error: People with albinism may be either farsighted or nearsighted and usually have astigmatism • Foveal hypoplasia: The retina, the surface inside the eye that receives light, does not develop normally before birth and in infancy • Optic nerve misrouting: The nerve signals from the retina to the brain do not follow the usual nerve routes The iris, the colored area in the center of the eye, has very little or no pigment to screen out stray light coming into the eye. Light normally enters the eye only through the pupil, the dark opening in the center of the iris, but in albinism light can pass through the iris as well. For the most part, treatment consists of visual rehabilitation. Surgery to correct strabismus may improve the appearance of the eyes. However, since surgery will not correct the misrouting of nerves from the eyes to the brain, surgery will not improve eyesight or fine binocular vision. In the case of esotropia or “crossed eyes,” surgery may help vision by expanding the visual field (the area that the eyes can see while looking at one point). Surgical intervention is also available to minimize nystagmus. People with albinism are sensitive to glare, but they do not prefer to be in the dark, and they need light to see just like anyone else. Sunglasses or tinted contact lenses may help outdoors. Indoors, it is important to place lights for reading or close work over a shoulder rather than in front. Various optical aids are helpful to people with albinism, and the choice of an optical aid depends on how a person uses his or her

eyes in jobs, hobbies or other usual activities. Some people do well using bifocals which have a strong reading lens, prescription reading glasses or contact lenses. Others use handheld magnifiers or special small telescopes, and some prefer to use screen magnification products on computers. Some people with albinism use bioptics, glasses which have small telescopes mounted on, in or behind their regular lenses so that one can look through either the regular lens or the telescope. Some states allow the use of bioptic telescopes for driving. Optometrists or ophthalmologists who are experienced in working with low vision patients can recommend various optical aids. Clinics should provide instruction in their use. The American Foundation for the Blind maintains a directory of low vision clinics. In Canada, support is available from the Canadian National Institute for the Blind.

Medical Problems In the United States, most people with albinism live normal life spans and have the same types of general medical problems as the rest of the population. The lives of people with HermanskyPudlak Syndrome can be shortened by lung disease or other medical problems. In tropical countries, people with albinism who do not have access to adequate skin protection may develop life-threatening skin cancers. If they use appropriate skin protection, such as sunscreens rated 20 SPF or higher and opaque clothing, people with albinism can enjoy outdoor activities even in summer.

Social Considerations People with albinism are at risk of isolation because the condition is often misunderstood. Social stigmatization can occur, especially within communities of color, where the race or paternity of a person with albinism may be questioned. Families and schools must make an effort to include children with albinism in group

activities. Contact with others with albinism or who have albinism in their families or communities is most helpful. NOAH can provide the names of contacts in many regions of the country.

This information may be shared as long as no changes are made, the copyright notice is kept intact, and the author and / or the photographer are given credit. https://www.albinism.org/information-bulletin-what-is-albinism/

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Transcript of Albinism What causes Albinism? mutation of several genes located on "autosomal" chromosome causing the inability of producing sufficient quantities of melanin inherited from both parents How is Albinism inherited? It is a recessive, autosomal trait = both parents need to have a defective gene for albinism to occur This means it can NOT be sex-linked Symptoms EYES reddish eyes (defective iris) sensitivity to light

involuntary eye movement (nystagmus) strabismus problems with vision blurred vision Diagnosis and Treatment An eye examination - main test (the physical appearance is not a diagnostic of albinism) NO treatment for albinism BUT some of its symptoms can be treated E.g. photophopia or squint ("lazy eye") can be treated with surgery, glasses or lenses How common? affect people of all ethnic groups and affects both sexes equally Often 1 in every 17 000 people has some form of albinism Albinism • Oculocutaneous albinism very fair skin and white or light-colored hair OCA type 1-4 • X-linked ocular albinism a gene mutation on the X chromosome What is Albinism? a hereditary genetic condition reduced production of melanin -> little or no pigment affects vision, eye, skin, and hair color recessive trait SKIN light skin (does not apply to all the cases) freckles lentigines skin burns HAIR white hair yellow or reddish hair (Africans and Asians) TYPES OF ABINISM Prevention is needed! wear sunglasses dress properly use sunscreen with a high sun protection Sources http://www.medicalnewstoday.com/articles/245861.php http://www.mayoclinic.org/diseases-conditions/albinism/basics/definition/con-20029935

http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism http://www.nhs.uk/Conditions/albinism/Pages/treatment.aspx http://www.visionfortomorrow.org/albinism-faqs/ http://www.geneticseducation.nhs.uk/mededu/modes-of-inheritance/single-gene-conditions/autosomalrecessive-conditions http://www.bio.net/bionet/mm/mol-evol/1995-November/003768.html Kristina Gabrizova, Veronika Kiselova

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Overview The term albinism typically refers to oculocutaneous (ok-u-low-ku-TAY-nee-us) albinism (OCA) — a group of inherited disorders where there is little or no production of the pigment melanin. The type and amount of melanin your body produces determines the color of your skin, hair and eyes. Melanin also plays a role in the development of optic nerves, so people with albinism have vision problems. Signs of albinism are usually apparent in a person's skin, hair and eye color, but sometimes differences are slight. People with albinism are also sensitive to the effects of the sun, so they're at increased risk of developing skin cancer. Although there's no cure for albinism, people with the disorder can take steps to protect their skin and eyes and maximize their vision.

Symptoms Signs and symptoms of albinism involve skin, hair, and eye color and vision.

Skin The most recognizable form of albinism results in white hair and very light-colored skin compared with siblings. Skin coloring (pigmentation) and hair color can range from white to brown, and may be nearly the same as that of parents or siblings without albinism. With exposure to the sun, some people may develop:

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Freckles

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Moles, with or without pigment — moles without pigment are generally pink-colored

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Large freckle-like spots (lentigines)

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Sunburn and the inability to tan

For some people with albinism, skin pigmentation never changes. For others, melanin production may begin or increase during childhood and the teen years, resulting in slight changes in pigmentation.

Hair Hair color can range from very white to brown. People of African or Asian descent who have albinism may have hair color that's yellow, reddish or brown. Hair color may also darken by early adulthood or stain from exposure to normal minerals in water and the environment, and appear darker with age.

Eye color Eyelashes and eyebrows are often pale. Eye color can range from very light blue to brown and may change with age. The lack of pigment in the colored part of the eyes (irises) makes the irises somewhat translucent. This means that the irises can't completely block light from entering the eye. Because of this, very light-colored eyes may appear red in some lighting.

Vision Vision impairment is a key feature of all types of albinism. Eye problems and issues may include: 

Rapid, involuntary back-and-forth movement of the eyes (nystagmus)

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Head movements, such as bobbing or tilting the head, to try to reduce the involuntary eye movements and see better

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Inability of both eyes to stay directed at the same point or to move in unison (strabismus)

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Extreme nearsightedness or farsightedness

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Sensitivity to light (photophobia)

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Abnormal curvature of the front surface of the eye or the lens inside the eye (astigmatism), which causes blurred vision

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Abnormal development of the retina, resulting in reduced vision

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Nerve signals from the retina to the brain that don't follow the usual nerve pathways (misrouting of the optic nerve)

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Poor depth perception

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Legal blindness (vision less than 20/200) or complete blindness

When to see a doctor At your child's birth, if the doctor notices a lack of pigment in hair or skin that affects the eyelashes and eyebrows, the doctor will likely order an eye exam and closely follow any changes in your child's pigmentation and vision. If you observe signs of albinism in your baby, talk to your doctor. Contact your doctor if your child with albinism experiences frequent nosebleeds, easy bruising or chronic infections. These signs and symptoms may indicate the presence of Hermansky-Pudlak syndrome or Chediak-Higashi syndrome, which are rare but serious disorders that include albinism. Request an Appointment at Mayo Clinic

Causes

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Autosomal recessive inheritance pattern Several genes provide instructions for making one of several proteins involved in the production of melanin. Melanin is produced by cells called melanocytes, which are found in your skin, hair and eyes.

Albinism is caused by a mutation in one of these genes. Different types of albinism can occur, based mainly on which gene mutation caused the disorder. The mutation may result in no melanin at all or a significantly reduced amount of melanin.

Types of albinism Types of albinism are classified based on how they're inherited and on the gene that is affected. 

Oculocutaneous albinism (OCA), the most common type, means a person inherited two copies of a mutated gene — one from each parent (autosomal recessive inheritance). It's the result of a mutation in one of seven genes, labeled from OCA1 to OCA7. OCA causes decreased pigment in the skin, hair and eyes, as well as vision problems. The amount of pigment varies by type, and the resulting color of skin, hair and eyes also varies by and within types.

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Ocular albinism is mainly limited to the eyes, causing vision problems. The most common form is type 1, inherited by a gene mutation on the X chromosome. X-linked ocular albinism can be passed on by a mother who carries one mutated X gene to her son (Xlinked recessive inheritance). Ocular albinism occurs almost exclusively in males and is much less common than OCA.

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Albinism related to rare hereditary syndromes can occur. For example, HermanskyPudlak syndrome includes a form of OCA as well as bleeding and bruising problems and lung and bowel diseases. Chediak-Higashi syndrome includes a form of OCA as well as immune problems with recurrent infections, neurologic abnormalities and other serious issues.

Complications Albinism can include skin and eye complications as well as social and emotional challenges.

Eye complications Problems with vision can impact learning, employment and the ability to drive.

Skin complications

People with albinism have skin that is very sensitive to light and sun exposure. Sunburn is one of the most serious complications associated with albinism because it can increase the risk of developing skin cancer and sun damage-related thickening of the skin.

Social and emotional challenges Some people with albinism may experience discrimination. The reactions of other people to those with albinism can often have a negative impact on people with the condition. People with albinism may experience bullying, teasing or probing questions about their appearance, eyewear or visual aid devices. They usually look very different from members of their own families or ethnic groups, so they may feel like outsiders or be treated like outsiders. These experiences may contribute to social isolation, poor selfesteem and stress. Using the term "person with albinism" is preferred to avoid the stigma of other terms.

Prevention If a family member has albinism, a genetic counselor can help you understand the type of albinism and the chances of having a future child with albinism. He or she can also explain the available tests. https://www.mayoclinic.org/diseases-conditions/albinism/symptoms-causes/syc-20369184

Ocular albinism Printable PDF

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Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision. Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). Although the vision loss is permanent, it does not worsen over time. Other eye abnormalities associated with this condition include rapid, involuntary eye movements (nystagmus); eyes that do not look in the same direction (strabismus); and increased sensitivity to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to the brain. Unlike some other forms of albinism, ocular albinism does not significantly affect the color of the skin and hair. People with this condition may have a somewhat lighter complexion than other members of their family, but these differences are usually minor. The most common form of ocular albinism is known as the Nettleship-Falls type or type 1. Other forms of ocular albinism are much rarer and may be associated with additional signs and symptoms, such as hearing loss. Related Information 

What does it mean if a disorder seems to run in my family?

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What is the prognosis of a genetic condition?

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Genetic and Rare Diseases Information Center

Frequency The most common form of this disorder, ocular albinism type 1, affects at least 1 in 60,000 males. The classic signs and symptoms of this condition are much less common in females. Related Information 

What information about a genetic condition can statistics provide?

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Why are some genetic conditions more common in particular ethnic groups?

Genetic Changes Ocular albinism type 1 results from mutations in the GPR143 gene. This gene provides instructions for making a protein that plays a role in pigmentation of the eyes and skin. It helps control the growth of melanosomes, which are cellular structures that produce and store a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their color. In the retina, this pigment also plays a role in normal vision. Most mutations in the GPR143 gene alter the size or shape of the GPR143 protein. Many of these genetic changes prevent the protein from reaching melanosomes to control their growth. In other cases, the protein reaches melanosomes normally but mutations disrupt the protein's function. As a result of these changes, melanosomes in skin cells and the retina can grow abnormally large. Researchers are uncertain how these giant melanosomes are related to vision loss and other eye abnormalities in people with ocular albinism. Rare cases of ocular albinism are not caused by mutations in the GPR143 gene. In these cases, the genetic cause of the condition is often unknown.

Learn more about the gene associated with ocular albinism Related Information 

What is a gene?

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What is a gene mutation and how do mutations occur?

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How can gene mutations affect health and development?

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More about Mutations and Health

Inheritance Pattern

Ocular albinism type 1 is inherited in an X-linked pattern. A condition is considered Xlinked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the GPR143 gene in each cell is sufficient to cause the characteristic features of ocular albinism. Because females have two copies of the X chromosome, women with only one copy of a GPR143 mutation in each cell usually do not experience vision loss or other significant eye abnormalities. They may have mild changes in retinal pigmentation that can be detected during an eye examination. Related Information 

What does it mean if a disorder seems to run in my family?

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What are the different ways in which a genetic condition can be inherited?

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More about Inheriting Genetic Conditions

Diagnosis & Management Resources

Genetic Testing (4 links)

Other Diagnosis and Management Resources (2 links)

General Information from MedlinePlus (5 links) Related Information 

How are genetic conditions diagnosed?

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How are genetic conditions treated or managed?

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What is genetic testing?

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How can I find a genetics professional in my area?

Other Names for This Condition

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albinism, ocular

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OA

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XLOA

https://ghr.nlm.nih.gov/condition/ocular-albinism#resources

albinism

in Tagalog

translation and definition "albinism", English-Tagalog Dictionary online add translation

albinism Type: noun;

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pagkaanak-araw lack of melanin pigmentation

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Albinismo congenital disorder causing skin to lack pigmentation

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albinismo congenital lack of melanin pigmentation in the skin, eyes, and hair or feathers (or more rarely only in the eyes); the condition of being albino Congenital lack of melanin pigmentation in the skin, eyes, and hair or feathers (or more rarely only in the eyes); the condition of being albino. more Show declension of albinism stemming

Example sentences with "albinism", translation memory add example What can help those with albinism to live with their condition?

Ano ang makatutulong sa mga may albinismo para maharap nila ang kanilang kalagayan? Living With Albinism

Buhay ng Isang May Albinismo One morning in 1943 while the prisoners lined up in the courtyard, I saw Albin!

Isang umaga noong 1943, habang nakapila ang mga bilanggo sa bakuran ng piitan, nakita ko si Albin! 27 Living With Albinism

27 Buhay ng Isang May Albinismo John, a West African living near the border between Benin and Nigeria, has albinism—a genetic disorder in which one’s eyes, skin, or hair (in some cases one’s eyes alone) have little or no pigmentation.

Si John, na taga-Kanlurang Aprika at nakatira malapit sa hanggahang nasa pagitan ng Benin at Nigeria, ay may albinismo—isang namamanang sakit kung saan ang mata, balat, o buhok ng isa (sa ilang kaso, mata lang ang apektado) ay mapusyaw o walang kulay. With good cooperation among parents, teachers, and school directors, a child with ocular albinism can make a success of his school years.

Sa pagtutulungan ng mga magulang, guro, at mga nangangasiwa sa paaralan, maaaring magtagumpay sa pag-aaral ang isang batang may ocular albinism. For a child with ocular albinism, going to school can be a test.

Maaaring maging malaking hamon sa mga batang may ocular albinism ang pagpasok sa eskuwela. On the other hand, many with albinism accept the word and do not feel offended by its usage.

Sa kabilang banda, tanggap ng maraming may albinismo ang salitang ito at hindi naman sila nasasaktan sa paggamit dito. Ocular albinism.

Ocular albinism. The End of Albinism

Mawawala Na ang Albinismo It is estimated that albinism affects 1 out of every 20,000 persons.

Tinatayang 1 sa bawat 20,000 katao ang may albinismo. Oculocutaneous albinism.

Oculocutaneous albinism. While albinism is most perceptible among dark-skinned people, it is found among all nations, races, and peoples.

Bagaman mas kapuna-puna ang albinismo sa mga taong maitim ang balat, makikita rin ito sa mga tao sa lahat ng bansa at lahi. There are many other forms of albinism that are less well-known.

Marami pang ibang uri ng albinismo na hindi gaanong kilala. SOME TYPES OF ALBINISM

ILANG URI NG ALBINISMO

To read an article about albinism that was true, factual, thoughtful, educational, and informative was most appreciated.

Malaking bagay ang artikulong ito, lalo pa nga’t ito ay makatotohanan, nakapagtuturo, at may simpatiya. Living With Albinism (July 2008) As a person living with this condition, I was at first happy to see the article.

Buhay ng Isang May Albinismo (Hulyo 2008) Dahil may albinismo ako, natuwa ako nang makita ko ang artikulong ito. The main categories of albinism include the following:

Kabilang sa mga pangunahing uri ng albinismo ang mga sumusunod: Albinism can also affect the eyes in a variety of ways.

Maaari ding maapektuhan ng albinismo ang mga mata sa iba’t ibang paraan. In January 1937 a work colleague, Albin Relewicz, who was a Witness, began talking to me about what the Bible teaches.

Noong Enero 1937, isang katrabaho ko, si AlbinRelewicz, na isang Saksi, ang nakipag-usap sa akin tungkol sa kung ano ang itinuturo ng Bibliya. There is a high concentration of this type of albinism in the Puerto Rican population, where the frequency is estimated to be 1 in 1,800 of the population.

Marami ang may ganitong sakit sa Puerto Rico, kung saan tinatayang 1 sa bawat 1,800 naninirahan doon ang may ganitong sakit. In August 1937, I accompanied Albin to an international assembly of the Witnesses in Paris.

Noong Agosto 1937, sumama ako kay Albin sa isang internasyonal na asamblea ng mga Saksi sa Paris. (Psalm 103:3) Then, albinism will be a thing of the past, for everybody who suffers from it will experience the fulfillment of Job 33:25: “Let his flesh become fresher than in youth; let him return to the days of his youthful vigor.”

(Awit 103:3) Kaya mawawala na magpakailanman ang albinismo, dahil mararanasan ng lahat ng may ganitong sakit ang katuparan ng Job 33:25: “Maging higit na sariwa pa ang kaniyang laman kaysa noong kabataan; mabalik siya sa mga araw ng lakas ng kaniyang kabataan.” In its most common form, albinism, a deficiency in pigmentation, occurs when a key protein called tyrosinase is either defective or absent.

Nagkakaroon ng pinakakaraniwang anyo ng albinism, ang kakulangan ng sangkap na pangkulay ng katawan, kapag depektibo o wala ang isang mahalagang protina na tinatawag na tyrosinase. Most people with albinism learn how to live with their physical limitations.

Natututuhang pakibagayan ng karamihan sa mga albino ang sakit nila.

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