Albinism

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Introduction

Introduction

Albinism affects the 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, which can cause characteristic signs and symptoms often obvious from birth.

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

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

  • problems with eyesight - they may benefit from wearing glasses, although these can't usually fully correct vision
  • nystagmus (involuntary eye movements)
  • photophobia (sensitivity to light)

Read more about the symptoms of albinism and diagnosing albinism.

What causes albinism?

In albinism, cells that produce melanin do not work properly because of inherited genetic mutations (faulty genes).

There are a number of faulty genes that can cause albinism, and these are passed onto a child by their parents.

Read more about the causes of albinism.

Who is affected

It is estimated that about one in every 17,000 people has some form of albinism.

The condition generally affects both sexes equally, although there is one type - known as ocular albinism (which mainly affects the eyes) - that is more common in males.

Albinism can affect people of all ethnic groups.

Treatment for people with albinism

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

Those with albinism will also need to take extra care in the sun. Without melanin, ultraviolet (UV) rays in sunlight can easily damage their skin (sunburn) and increase their risk of developing skin cancer.

Read more about treating albinism.

Outlook

Albinism is a lifelong condition, but it doesn't get worse over time.

A person with albinism's vision is unlikely to ever reach normal levels, even with glasses or contact lenses, and a child with the condition will often need extra support at school.

A child with albinism may also need support to help them deal with any bullying they may experience because they look different.

However, there is usually no reason why a person with albinism cannot otherwise do well in normal schooling, further education and employment.

Information about you

If you have albinism, your clinical team will pass information about you on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).

This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.

Find out more about the register.

The 100,000 Genomes Project

You may be invited to take part in the 100,000 Genomes Project.

Your DNA will be studied to find out more about the cause of your albinism. The aim is to create a new personalised medicine service for the NHS. This should transform the way people are cared for.

Find out if you might be able to take part.


Signs and symptoms of albinism

Signs and symptoms of albinism

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

The most common type of albinism, called oculocutaneous albinism (OCA), affects all of these. A rarer type called ocular albinism (OA) mainly affects the eyes, although a person with the condition may also have skin and hair that is fairer than the rest of their family.

Hair and skin

A person with albinism will often have white or very light blonde 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 usually have very pale blue or grey eyes. The missing pigment can also cause other eye conditions, such as:

  • poor eyesight - either short-sightedness (myopia) or 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 - where the eyes are sensitive 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 the eyes point in different directions

Young babies with albinism often appear to have severe vision problems and, although their sight tends to rapidly improve during the first six months, it will never usually reach normal levels.

Young children with albinism may 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. But as the child develops, and with aids to help their vision, this should improve.

Related conditions

Signs and symptoms of albinism can also be found in people with similar conditions, such as Hermansky Pudlak syndrome (HPS) and Chediak-Higashi syndrome (CHS).

These are rare genetic conditions that can cause other symptoms in addition to the signs of albinism 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. CHS can weaken the immune system and lead to an increased risk of infections.

Speak to your GP if your child has albinism and you notice that they bleed a lot, bruise easily, or that they become ill frequently.


Causes of albinism

Causes of albinism

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

Melanin is also involved in the development of the retina (the thin layer of nerve cells that line the inside of the back of the eye) and nerve connections between the retina and the brain, which is why most people with albinism have vision problems.

In people with albinism, the cells that make melanin do not work due to a faulty (mutated) gene.

There are two main types of albinism:

  • oculocutaneous albinism (OCA) - the most common type that affects the skin, hair and eyes
  • ocular albinism (OA) - a rarer type that mainly affects the eyes

These two types are caused by different genetic faults, and they can be divided into many further sub-types that are caused by a number of different faulty genes.

How albinism is inherited

In most cases, including all types of OCA and some types of OA, albinism is passed on in what is known as an autosomal recessive inheritance pattern.

However, some types of OA are caused by a mutation on the X chromosome (one of the sex chromosomes). This is known as an X-linked inheritance pattern.

Autosomal recessive inheritance

An autosomal recessive condition 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 faulty 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 that their child will have albinism and a one in two chance they will be a carrier.

X-linked inheritance

X-linked recessive conditions often don't affect females because females have two X chromosomes, one of which will be normal and can usually compensate for the mutated chromosome. However, females who inherit the mutation will become carriers.

If a male inherits the mutation from his mother (males receive a Y chromosome from their fathers), he will not have a normal copy of the gene and will develop albinism.

When a mother is a carrier of an X-linked mutation, each daughter they have has a one in two chance of becoming a carrier and each son they have has a one in two chance of having albinism.

When a father has an X-linked condition, his daughters will become carriers of the mutation.

Genetic counselling 

If you have a history of albinism in your family, or you have a child with the condition, you may be referred for genetic counselling.

Genetic counselling is a service that provides support, information and advice about genetic conditions.

An adult or child diagnosed with albinism may also be referred for genetic counselling to discuss how the condition was inherited and what the chances are of passing the condition on.

Read more about genetic testing and counselling.


Diagnosing albinism

Diagnosing albinism

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

Your baby's hair, skin and eyes may be examined 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 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 the eyes point in different directions
  • look for signs of astigmatism, where the cornea (front of the eye) is not a perfectly curved shape

Electrodiagnostic testing is also sometimes performed to help make the diagnosis. This is where small electrodes are stuck to the scalp to test the connections of the eyes to the part of the brain that controls vision.

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


Treatment and support for people with albinism

Treatment and support for people with albinism

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

Eye problems

Many babies with albinism may seem to have severely impaired vision during the first few months of life, but their vision often improves significantly by the time they are a few months old. This is known as delayed vision maturation.

However, their vision is unlikely to ever reach normal levels, so they may need help to improve their sight and adapt to their low vision.

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 totally correct their vision. However, there are a number of low vision aids available, including:

  • large-print or high-contrast (for example, white text on a black background) books and printed materials, such as school printouts and exam papers
  • 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 smartphones that allow you to magnify the display to make writing and images easier to see 

The Royal National Institute of Blind People (RNIB)  provides more information about living with low vision, including:

There is no reason why, with appropriate help and support, most children with albinism cannot attend a mainstream school.

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) is where one eye looks in a different direction to the other. They are a common childhood condition and are often treated with glasses to correct the vision problems that may be causing the squint.

If your child's squint has caused them to develop a "lazy eye" (where the vision in the affected eye gradually deteriorates because the brain ignores the signals being sent from it), they may also benefit from wearing a patch over their "good" eye to encourage their other eye to work harder.

Patches are most effective before a child reaches seven or eight years of age. Most children will need to wear the patch for a few hours a day for several weeks.

In some cases, surgery may be carried out to improve the alignment of the eyes and help them work together.

Read more about squint surgery

Nystagmus

Nystagmus is involuntary eyes movements, usually from side to side. This causes reduced vision that glasses and contact lenses cannot correct.

There is currently no cure for nystagmus, but it's not painful and does not get worse. 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. For more information, see the NICE guidance about tenotomy of horizontal eye muscles for nystagmus.

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, which are caused by sunlight damaging the skin.

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 (between 11am and 3pm)
  • 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 increases your risk of skin cancer, as does 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.