Albinism

Albinism affects the production of melanin, the pigment that colours skin, hair and eyes. It's a lifelong condition, but it doesn't get worse over time.

People with albinism have a reduced amount of melanin, or no melanin at all. This can affect their colouring and their eyesight.

Albinism is caused by faulty genes that a child inherits from their parents.

Symptoms of albinism

Hair and skin colour

People with albinism often have white or very light blonde hair, although some have brown or ginger hair. The exact colour depends on how much melanin their body produces.

Very pale skin that burns easily in the sun and doesn't usually tan is also typical of albinism.

Eye colour

Someone with albinism can have pale blue, grey or brown eyes. Eye colour depends on the type of albinism and the amount of melanin. People from ethnic groups with darker pigmentation tend to have darker coloured eyes.

Eye problems

The reduced amount of melanin can also cause other eye problems. This is because melanin is involved in the development of the retina, the thin layer of cells at the back of the eye.

Possible eye problems linked to albinism include:

poor eyesight – either short-sightedness or long-sightedness, and low vision (sight loss that can't be corrected)
astigmatism – where the cornea (clear layer at the front of the eye) isn't perfectly curved or the lens is an abnormal shape, causing blurred vision
photophobia – where the eyes are sensitive to light
nystagmus – where the eyes move involuntarily from side to side, causing reduced vision; you don't see the world as "wobbling" because your brain adapts to your eye movement
squint – where the eyes point in different directions

Some young children with albinism may appear clumsy because problems with their eyesight can make it difficult for them to perform certain movements, such as picking up an object. This should improve as they get older.

How albinism is inherited

The two main types of albinism are:

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

Autosomal recessive inheritance

In most cases, including all types of OCA and some types of OA, albinism is passed on in an autosomal recessive inheritance pattern. This means a child has to inherit two copies of the faulty gene (one from each parent) to have the condition.

If both parents carry the gene, there's a 1 in 4 chance that their child will have albinism and a 1 in 2 chance that their child will be a carrier. Carriers don't have albinism but can pass on the faulty gene.

X-linked inheritance

Some types of OA are passed on in an X-linked inheritance pattern. This pattern affects boys and girls differently: girls who inherit the faulty gene become carriers and boys who inherit the faulty gene will get albinism.

When a mother is a carrier of an X-linked type of albinism, each of her daughters has a 1 in 2 chance of becoming a carrier and each of her sons has a 1 in 2 chance of having albinism.

When a father has an X-linked type of albinism, his daughters will become carriers, and his sons won't have albinism and won’t be carriers.

Read more about how mutations are passed on.

Genetic counselling

If you have a history of albinism in your family or you have a child with the condition, you may want to talk to your GP about getting a referral for genetic counselling.

A genetic counsellor provides information, support and advice about genetic conditions. For example, you can discuss with them how you inherited albinism and the chances of passing it on.

Read more about genetic testing and counselling.

Diagnosing albinism

Albinism is usually obvious from a baby's appearance when they're born. Your baby's hair, skin and eyes may be examined to look for signs of missing pigment.

As albinism can cause a number of eye problems, your baby may be referred to an eye specialist (ophthalmologist) for tests to check for conditions such as nystagmus, squint and astigmatism.

Electrodiagnostic testing is also sometimes used to help diagnose albinism. 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.

Treatments for eye problems due to albinism

Although there's no cure for the eye problems caused by albinism, there are a number of treatments, such as glasses and contact lenses, that can improve vision.

A child with albinism may also need extra help and support at school.

Glasses and contact lenses

As a child with albinism gets older, they'll need regular eye tests, and it's likely they'll need to wear glasses or contact lenses to correct problems such as short-sightedness, long-sightedness or astigmatism.

Low-vision aids

Vision aids include:

large-print or high-contrast books and printed materials
magnifying lenses
a small telescope or telescopic lenses that attach to glasses to read writing in the distance, such as on a school whiteboard
large computer screens
software that can convert speech into typing or vice versa
tablets and phones that allow you to magnify the display to make writing and images easier to see

The Royal National Institute of Blind People (RNIB) has more information about living with low vision, including a section on education and learning.

Photophobia or sensitivity to light

Sunglasses, tinted glasses and wearing a wide-brimmed hat outside can help with sensitivity to light.

Nystagmus

There's currently no cure for nystagmus (where the eyes move from side to side involuntarily). However, it isn't painful and doesn't get worse.

Certain toys or games may help a child make the most of the vision they have. An ophthalmologist will be able to provide further advice.

Surgery, involving dividing and then reattaching some of the eye muscles, may occasionally be an option. Read more about the procedure "tenotomy of horizontal eye muscles for nystagmus".

Squint and lazy eye

The main treatments for squints are glasses, eye exercises, surgery and injections into the eye muscles.

If your child has developed a lazy eye, they may benefit from wearing a patch over their "good" eye to encourage their other eye to work harder.

Reducing the risk of sunburn and skin cancer

Because people with albinism lack melanin in their skin, they're at increased risk of getting sunburn and skin cancer.

If you have albinism, you should wear sunscreen with a high sun-protection factor (SPF). An SPF of 30 or more will provide the best protection.

It's also a good idea to look out for skin changes, such as:

a new mole, growth or lump
any moles, freckles or patches of skin that change in size, shape or colour

Report these to your doctor as soon as possible. Skin cancer is much easier to treat if it's found early.

Help and support

There's usually no reason why someone with albinism can't do well in normal schooling, further education and employment.

With appropriate help and support, most children with albinism can attend a mainstream school.

Speak to your child's teacher if your child experiences bullying or name-calling because of their condition.

Read more about bullying, including advice for parents.

It may also help to talk to other people with albinism. The Albinism Fellowship has a contact person network that can provide advice and support locally.

National Congenital Anomaly and Rare Diseases Registration Service

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

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

Symptoms

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

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

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

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:

making practical adaptations to your home, such as using bright colours for door frames, door handles, banisters and light switches
specially adapted technology for people with vision problems, such as computers and phones
advice about school options for a child with vision problems

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

A 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.

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

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.