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Albinism





Albinism

Causes of albinism

Albinism is caused by a lack of the pigment melanin, which usually gives the hair, skin and eyes their colour.

In people with albinism, the cells that make melanin do not work due to genetic mutations (faulty genes).

Different genes are responsible for the different types of albinism.

Oculocutaneous albinism (OCA)

Oculocutaneous albinism (OCA) is the most common type of albinism. Several different genes have been identified that may cause OCA.

Mutations (changes) in different genes cause different types of OCA. For example:

  • OCA1A and OCA1B are caused by mutations in the tyrosinase gene
  • OCA2 is caused by mutations in the P gene 
  • OCA3 is caused by mutations in the TRP-1 gene 
  • OCA4 is caused by mutations in the SLC45A2 gene

How OCA is inherited

OCA is an autosomal recessive condition. This means you need to inherit two copies of the faulty gene (one from your mother and one from your father) to have the condition.

It is estimated that about one in 70 people carry the gene that causes OCA. Carriers of the gene are not affected by the condition and have a normal amount of melanin. If both parents carry the gene, there is a one in four chance their child will have albinism.

Ocular albinism (OA)

There are two types of ocular albinism (OA). These are caused by different genes and are also inherited in different ways:  

  • OA1 is caused by a mutation in the GPR143 gene 
  • autosomal recessive ocular albinism (AROA) is caused by mutations in either the tyrosinase gene or the P gene

Genetic counselling 

An adult or child diagnosed with albinism may be referred for genetic counselling. This is a discussion with a geneticist (a healthcare professional trained in the science of human genetics).

The genetic counsellor may be able to explain in more detail what has caused the particular type of albinism and how the condition was inherited.

Read more about genetic testing and counselling.

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Published Date
2013-04-16 10:43:35Z
Last Review Date
2012-11-06 00:00:00Z
Next Review Date
2014-11-06 00:00:00Z
Classification
Genetic conditions and birth defects






Albinism

Diagnosing albinism

In most cases, albinism will be obvious from a baby’s characteristics when they are born.

Healthcare professionals may examine the baby’s hair, skin and eyes to look for signs of missing pigment, such as white hair or pale grey eyes.

Eye examination

As albinism can cause a number of eye conditions, the baby’s eyes will need to be examined to see how they are affected.

They may be referred to an ophthalmologist for these tests. Ophthalmologists are medical doctors who specialise in diagnosing and treating eye conditions. They mainly work in hospitals and hospital eye departments.

During the eye examination, the ophthalmologist may: 

  • use eye drops to enlarge the baby’s pupils
  • examine the baby’s eyes with a slit lamp, which is a microscope with a very bright light
  • look for signs of nystagmus (where the eyes move uncontrollably, usually from side to side)
  • look for signs of a squint (strabismus), which is where one eye turns inwards, outwards, upwards or downwards while the other eye looks forwards
  • look for signs of astigmatism, where the cornea (front of the eye) is not a perfectly curved shape

As the child gets older, they will need regular eye tests to monitor their vision, and may be prescribed glasses or contact lenses. 

Published Date
2013-04-16 10:43:49Z
Last Review Date
2012-11-06 00:00:00Z
Next Review Date
2014-11-06 00:00:00Z
Classification
Eye






Albinism

Introduction

Albinism affects production of melanin, the pigment that colours skin, hair and eyes.

People with albinism have a reduced amount of melanin or no melanin at all.

Depending on the amount of melanin a person has, they may have very pale hair, skin and eyes, but some may have brown or ginger hair and skin that can tan.

People with albinism usually have a number of eye conditions such as:

  • photophobia (sensitivity to light) – they may feel dazzled by bright light
  • problems with eyesight – they may benefit from wearing glasses, although vision is often still impaired even with glasses (see below)
  • involuntary eye movements (nystagmus)

Read more about the symptoms of albinism

What causes albinism?

Albinism is caused by a lack of the pigment melanin, which usually gives hair, skin and eyes their colour.

In albinism, cells that produce melanin do not work because of genetic mutations (faulty genes). Different genes are responsible for the different types of albinism.

Oculocutaneous albinism (OCA) is the most common type of albinism. Several different genes have been identified that may cause OCA.

Read more about the causes of albinism.

Diagnosing albinism

Albinism is usually obvious when a baby is born.

As albinism can cause a number of eye conditions, your baby’s eyes will need to be examined to see how they are affected. They may be referred to an ophthalmologist (a doctor who specialises in diagnosing and treating eye conditions) for these tests.

Read more about how albinism is diagnosed.

Treating albinism

Albinism itself does not need treatment, but the associated skin and eye problems it can cause do.

A child with albinism will need regular eye tests and it is likely they will need to wear glasses or contact lenses to correct vision problems such as short-sightedness, long-sightedness and astigmatism.  

A person with albinism will need to take extra care in the sun. Without melanin in their skin, ultraviolet (UV) rays in sunlight can easily damage their skin (sunburn).

Read more about how albinism is treated.

Outlook

Albinism does not get worse and the condition does not alter a person’s life expectancy. However, people with albinism have an increased risk of developing skin cancer.

Babies with albinism often appear to have severe vision impairment, but their vision rapidly improves during the first six months. However, vision does not reach normal levels and the child will need extra support at school. They will otherwise do well in normal schooling.

Albinism does not affect a child’s intelligence, but may affect their social development. For example, if they are bullied because they look different, they may find it difficult to make friends and play with other children in a group.

This may be partly due to a tendency to invade other children’s personal space by getting very close to see. They may also need help finding their friends across a crowded playground.

Young children with albinism may also appear clumsy because their reduced vision can affect their ability to learn certain actions and movements, such as picking up an object or learning how to crawl. As the child develops, and with aids to help their vision, this should improve.

Published Date
2014-06-23 14:36:31Z
Last Review Date
2012-11-06 00:00:00Z
Next Review Date
2014-11-06 00:00:00Z
Classification
Eye,Eye conditions,Eye tests,Light sensitivity,Long-sightedness,Short-sightedness,Spectacles,Vision problems






Albinism

Symptoms of albinism

In albinism, the lack of the pigment, melanin, affects the colour of a person’s hair, skin and eyes.

Hair and skin

A person with albinism will often have white or very light blond hair. However, some people have brown or ginger hair. The exact hair colour will depend on how much melanin their body produces.

People with albinism also have very pale skin that will usually not tan and burns easily in the sun.

Eyes

A person with albinism is missing the pigment from their irises (the coloured part of the eye). As a result, they will have very pale blue or grey eyes. The missing pigment also causes other eye conditions such as:

  • poor eyesight – both short-sightedness (myopia) and long-sightedness (hyperopia) and low vision (sight loss that cannot be corrected)
  • astigmatism – where the cornea (front of the eye) is not a perfectly curved shape or the lens is an abnormal shape, causing blurred vision
  • photophobia (sensitivity to light)
  • nystagmus - where the eyes move uncontrollably from side to side, causing reduced vision; however, despite the eyes of a person with albinism constantly moving, they do not see the world as ‘wobbling’ because their brain adapts to their moving eyes 
  • squint – where one eye drifts in another direction when the other eye is looking at you

Regardless of their specific eye problems, many people born with albinism find they can see an object more clearly if they hold it very close to their eyes. As they get older, it may be more difficult to hold objects up close, so a magnifying lens can help.

Types of albinism

There are two main types of albinism, which can cause slightly different symptoms:

  • oculocutaneous albinism (OCA) – affects the person’s hair, skin and eyes
  • ocular albinism(OA) – mainly affects the person’s eyes, although they may also have skin and hair that is fairer than the rest of their family

Oculocutaneous albinism is the most common type of diagnosed albinism. It is possible that people who have nystagmus (uncontrolled eye movement) with an unknown cause, actually have a type of albinism.

There are different types of both oculocutaneous and ocular albinism depending on the exact cause of albinism.

Hermansky Pudlak syndrome (HPS)

Hermansky Pudlak syndrome (HPS) is a rare type of albinism.

As well as the symptoms described above, HPS can also cause bleeding disorders, such as uncontrollable bleeding or bruising easily. It can also affect the heart, kidneys, lungs and gut.

Speak to your GP if your child has albinism and you notice they bleed a lot or bruise easily.

Published Date
2013-04-16 10:43:20Z
Last Review Date
2012-11-06 00:00:00Z
Next Review Date
2014-11-06 00:00:00Z
Classification
Eye,Hair,Skin






Albinism

Treating albinism

Albinism itself does not need to be treated, but the associated skin and eye problems it can cause do.

Eye problems

Many babies with albinism may seem to be blind during the first few months of life. However, their vision often improves significantly when they are a few months old. This is known as delayed vision maturation.

Glasses and contact lenses

If the child is short-sighted (myopia) or long-sighted (hyperopia), glasses or contact lenses may improve their vision.

Glasses or contact lenses can also be used to correct astigmatism, which is when the cornea (front of the eye) is not a perfectly curved shape.

Regular eye tests will be needed to check the prescription of the glasses or lenses. See NHS opticians for more information about eye tests.

Low vision

As the vision of a person with albinism never fully develops, it is not possible for glasses or contact lenses to fully correct their vision. However, there are a number of low vision aids available, including:

  • large-print books
  • magnifying lenses
  • a small telescope or telescopic lenses that attach to glasses to read writing in the distance, such as a school blackboard
  • a special computer with a large screen or software that can convert speech into typing or typing into speech
  • tablets and smart phones that allow you to magnify the display to make writing and images easier to see 

The Royal National Institute for Blind and Partially Sighted People (RNIB) provides more information about living with sight loss, including:

Photophobia

It may be possible to reduce a person’s sensitivity to light (photophobia) by wearing sunglasses or tinted glasses. A wide-brimmed hat can also be worn outside. The hat’s fabric should be a dark colour and not shiny, so less light is reflected into the eyes.

Squint

squint (strabismus), where one eye looks in a different direction to the other, is caused by an incorrect balance of the eye muscles. Squints are a common childhood condition and usually treated with glasses or an eye patch.

Babies with albinism and a squint may be given an eye patch to wear from six months of age, when their eyes are still developing. This is worn over the ‘good’ eye to encourage the eye with the squint to work harder.

Nystagmus

Nystagmus causes the eyes to move uncontrollably, usually from side to side, but sometimes up and down. This causes reduced vision that glasses and contact lenses cannot correct (although they may be needed for other vision problems).

In nystagmus, a person’s surroundings will not appear to move despite their eyes constantly moving. This is because their senses adapt to the movement of their eyes. However, if the person feels tired or unwell, their nystagmus may be more noticeable and they may become aware of the movement of their eyes.

Nystagmus is not painful and does not get worse, but there is currently no cure. However, there are certain toys or games that may help the child make the most of the vision they have. An ophthalmologist (a specialist in eye conditions and their treatment) will be able to provide further advice.

Occasionally, surgery may be an option. There is a type of surgery called ‘tenotomy of horizontal eye muscles’ that divides and then reattaches some of the eye muscles. The aim is to reduce the frequency and degree of eye movement.

The National Institute for Health and Care Excellence (NICE) has said that while this procedure is safe, it is not yet clear how effective it is.

See the NICE guidance about tenotomy of horizontal eye muscles for nystagmus for more information.

An ophthalmologist will be able to advise you about whether surgery is appropriate and what the risks and benefits are.

Skin problems

As a person with albinism has a lack of melanin (pigment) in their skin, they are at increased risk of sunburn and skin cancer.

Sunburn

People with albinism should wear sunscreen with a high sun protection factor (SPF). An SPF of 30 or more will provide the best protection.

Sunscreen should be thickly applied at least 15 minutes before going out in the sun. For maximum protection, choose a lotion that protects against both UVA and UVB rays.

You should also:

  • avoid going out when it is very hot and the sun is at its strongest
  • when buying sunglasses, choose a pair that have UV filters
  • when out in the sun, cover up with a hat and loose-fitting clothing, such as a long-sleeved top

Read more about preventing sunburn.

Skin cancer

Having pale skin is a risk factor for skin cancer, as is previously burning your skin in the sun. People with albinism should meticulously follow the advice above to avoid sunburn and check their skin regularly for signs of skin cancer, such as a new spot or growth on their skin.

Read more about the symptoms of skin cancer.

Published Date
2013-05-24 14:05:57Z
Last Review Date
2012-11-06 00:00:00Z
Next Review Date
2014-11-06 00:00:00Z
Classification
Eye,Eye conditions,Eye specialists,Eye tests,Light sensitivity,Long-sightedness,Short-sightedness,Skin tumours,Spectacles,Squint,Sunburn,Vision problems,Visual impairment and blindness