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.
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:
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.
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
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 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.
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.
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.
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
Albinism itself does not need to be treated, but the associated skin and eye problems often do.
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 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.
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
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.
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.
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 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.
As a person with albinism has a lack of melanin (pigment) in their skin, they are at increased risk of skin cancer, which are caused by sunlight damaging the skin.
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