Albinism

Page last reviewed: 13/07/2011

Albinism is the name for a group of inherited conditions that affect the production of melanin.

Melanin is the pigment that colours the skin, hair and irises (coloured parts of the eyes). 

People with albinism may have a reduced amount of melanin, or no melanin at all. The symptoms of albinism vary depending on the amount of melanin someone has.

They often 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:

  • Sensitivity to light,known medically as photophobia. They may feel dazzled by bright light.
  • Problems with eyesight, such as short-sightedness. They may benefit from glasses, but their vision is usually still impaired even with glasses. 
  • Involuntary movements of the eye, known as nystagmus

For more information, see Albinism - symptoms.

How common is albinism?

There are several different types of albinism. In most cases these affect both sexes equally, although there is one type of ocular albinism (mainly affecting the eyes) that is more common in males. 

Albinism can affect people of all ethnic groups. Particular types of albinism are more common in different parts of the world. For example, Hermansky Pudlak syndrome is very rare in the UK, but affects 1 person in 2,700 in Puerto Rico.  

Vision problems

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

A child with albinism will need regular eye tests and it is very likely they will need to wear glasses or contact lenses to correct problems such as:

  • short sightedness
  • long sightedness
  • astigmatism (an eye condition that causes blurred vision)

However, glasses or contact lenses may not completely correct the child's vision problems. They may also need low-vision aids, such as magnifying lenses, and their vision is likely to be poor even with these aids. See Albinism - treatment for more information.

Outlook

Albinism does not alter life expectancy, although people with albinism are more prone to skin cancer (see below).

The condition does not get worse. For example, any vision problems that a child has will remain the same as they get older.

Albinism does not affect a child's intelligence, although it 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.

Young children may also appear clumsy as their reduced vision affects 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 may improve. 

Albinism itself does not need treatment, but people with albinism will need to take care in the sun as without melanin in their skin they can easily burn.

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

Page last reviewed: 13/07/2011

 

Hair and skin

Many people with albinism have white or very light blond hair, although some people have brown or ginger hair. The colour of their hair will depend on how much melanin (pigment) their body produces.

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

Eyes

People with albinism are missing the pigment from their irises (the coloured part of the eye). They have very pale blue or grey eyes. The missing pigment also causes other eye conditions, such as:

  • poor eyesight (both  short and long sightedness and low vision (sight loss that cannot be corrected)
  • astigmatism,which is when the cornea (front of the eye) is not a perfectly curved shape or the lens is an abnormal shape, causing blurred vision
  • sensitivity to light (photophobia)
  • nystagmus, which is where the eyes move uncontrollably, usually from side to side, causing reduced vision
  • squint,which is where one eye turns inwards, outwards, upwards or downwards while the other eye looks forwards

Regardless of their specific eye problems, many people born with albinism will find they can see an object more clearly if they hold it very close to their eyes. As they get older, it may be harder 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, which affects the person's hair, skin and eyes
  • ocular albinism, which 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 albinism that is diagnosed. It is possible that many people who have nystagmus with an unknown cause actually have a type of albinism. Albinism - causes)

There are further different types of both oculocutaneous and ocular albinism depending on the exact cause.(see Albinism causes)

Hermansky Pudlak syndrome (HPS)

Hermansky Pudlak syndrome (HPS) is a very rare type of albinism. As well as the symptoms mentioned above, HPS can also cause bleeding disorders, such as uncontrollable bleeding or bruising easily. HPS can also affect the heart, kidneys, lungs and gut.

If your child has albinism and you notice that they bruise easily or bleed a lot, speak to your GP.

Page last reviewed: 13/07/2011

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 because of genetic mutations (faulty genes).

Different genes are responsible for the different types of albinism.

Oculocutaneous albinism

Oculocutaneous albinism (OCA) is the most common type of albinism. Several different genes have been identified that may cause OCA. Mutations 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 that 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 1 person in 70 carries the gene that causes OCA. People who carry the gene are not affected by the condition and have a normal amount of pigment. If both the man and woman of a couple carry the gene, there is a one in four chance that their child will have albinism.

Ocular albinism

There are two different 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 

If an adult or child has been diagnosed with a type of albinism, they may be referred for genetic counselling. This is a discussion with a healthcare professional who is trained in the science of human genetics (a geneticist).

The genetic counsellor may be able to explain in more detail exactly what has caused this particular type of albinism and how the condition was inherited. See the Health A-Z topic about Genetics - genetic testing and counselling for more information.

Why albinism affects the eyes

The eye-related symptoms of albinism are caused by the retina not developing properly. The retina is a thin layer of nerve cells lining the inside of the back of the eye.

Part of the retina, called the macula, does not develop properly if there is no melanin present when the eyes are forming in an unborn baby.

The nerve connections between the retina and the brain may also be affected by the lack of melanin.

This causes vision problems, such as short- or long-sightedness, and communication problems between the eyes and the brain.

Page last reviewed: 13/07/2011

In most cases, albinism is obvious when a baby is 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. An ophthalmologist is a medical doctor who specialises in eye disease and its treatment or surgery. Ophthalmologists mainly work in hospitals and hospital eye departments.

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, which is 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, which is when 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 be prescribed glasses or contact lenses as necessary. 

Page last reviewed: 13/07/2011

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

Eye problems

A lack of melanin in the eyes can cause a number of vision problems. Treatment will depend on what effect the condition has had.  

Glasses and contact lenses

If the person is short-sighted or long-sighted then 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 are needed to check the prescription of the glasses or lenses.

Low vision

People with albinism often have a degree of vision loss that glasses alone cannot correct. In these cases, there are other low-vision aids available, such as:

  • large-print books
  • magnifying lenses to read close-up writing
  • a small telescope or telescopic lenses that attach to glasses to read writing in the distance, such as a blackboard at school
  • a special computer with a large screen or software that can convert speech into typing and the other way around

The National Councel for the Blind in Ireland (www.NCBI.ie)

  • practical adatpations to the home, such as making door handles or light switches a different colour so they are easier to see 
  • advice about school options for a child with albinism

Photophobia

A person with albinism may be able to reduce photophobia (sensitivity to light) by wearing sunglasses or tinted glasses. A cap or a visor can also be worn outside.

Squint

A squint or strabismus, where one eye looks a different way to the other, is caused by an incorrect balance of the eye muscles. Squints are a common childhood condition and are 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 these may be needed for other vision problems).

Although the eyes are constantly moving, the world does not appear to be constantly moving because the person's senses adapt to the movement of the eyes. It is only if the person is feeling particularly tired or unwell, and the nystagmus becomes more noticeable, that they 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 disease and its treatment) should be able to give further advice.

Occasionally, surgery may also be an option. There is a type of surgery called 'tenotomy of horizontal eye muscles' that divides and then reattaches some of the muscles of the eye. The aim is to reduce how frequently and how much the eyes move.

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

An ophthalmologist should be able to advise if surgery is appropriate and what the risks and benefits are.

Skin problems

The lack of melanin (pigment) in the skin of people with albinism means 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.

The sun is at its strongest between 11am and 3pm, so it is best to avoid going out during these hours.

When buying sunglasses, a style with UV filters is best.

It is wise to cover up with a hat and loose clothing, such as long-sleeved tops, when out in the sun.

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.

Content provided by NHS Choices www.nhs.uk and adapted for Ireland by the Health A-Z.

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