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Understanding Albinism

If you are a person with Albinism, a parent or family member of a child with Albinism or a professional who is working with a child with Albinism you will probably have lots of questions about the condition – this booklet aims to answer some of those questions.

What is Albinism?

Albinism is a rare inherited life-long condition that occurs worldwide across all races and ethnic backgrounds. In the UK, it is thought that Albinism affects 1:17,000 although this is probably an underestimate. People with Albinism do not produce sufficient melanin (pigment) and this affects their eyes, skin and hair. There is no known way to help people with Albinism produce more melanin at present, research studies are underway.

The two main forms of Albinism are called Occulocutaneous Albinism, and Ocular Albinism.

Types of Albinism

There are many different types of Albinism but most experts would say there are two main types of Albinism that vary by:

  • Which parts of the body are mainly affected
  • How much melanin the person makes

Oculocutaneous Albinism (OCA)

Affects the eyes, hair and skin and there are two more common types that vary according to how much melanin the person is able to make.

Type 1 Tyrosinase Negative Oculocutaneous Albinism (OCA1a)

Here, the person cannot make any melanin at all. Tyrosinase is the name of the enzyme that helps the child make melanin. A mistake in the person’s genes mean that they do not have a working Tyrosinase enzyme. People with this type of Albinism will have no pigmentation at all so will have very white hair and pale skin. Their eyes will appear pale blue or grey and they are also likely to have Nystagmus and a significant
visual impairment or partial sight.

Type 2 Albinism (OCA2)

In this type of Albinism, people can make some melanin but not as much as normal. Their hair is generally pale blond and their skin is not as pale. Their eyes are usually blue or sometimes pale brown. They usually have Nystagmus but their vision is less impaired.

Ocular Albinism (OA)

In Ocular Albinism, it is the eyes that are affected in the same way as for OCA. The skin and hair usually appears the same as is normal for the race of the person or slightly paler. Usually OA only affects boys and is inherited from the mother. New studies have shown that some people have a more mild form of Albinism with some of the eye, hair and skin features but not others. Visual problems caused by subtle forms of Albinism seem to be far more common than previously thought (and are quite common in relatives of people with more obvious forms of albinism).

Albinism associated with other conditions

There are some other conditions in which people have Albinism but which also affect more parts of the body. If a person with Albinism bruises easily they may have the very rare condition called Hermansky- Pudlak Syndrome where the blood does not clot well. It can also lead to people becoming short of breath easily. If a person has this condition it is important that it is identified early. For more information, please see the Hermansky-Pudlak Syndrome Network website: www.hpsnetwork.co.uk. If a person with Albinism develops infections more often than usual they may have another extremely rare condition called Chediak-Higashi Syndrome. In this condition people have a lower immunity to infection. There is currently no UK support group for this condition.

What impact does Albinism have on the eyes?

The eye problems caused by Albinism are static and DO NOT get worse with age. The vision a child born with Albinism has is normal for them and they will develop great coping skills with the right help and support. There are a number of ways that Albinism can affect the eyes and often people will not have all of the features.

Nystagmus

This is characterised by involuntary movements of the eye where they appear to flicker or wobble from side to side or up and down. The brain adapts so that the person with Albinism does not see the world as constantly moving. Many people with Nystagmus have what is called a null point, the position where their eyesight is best (because the eyes wobbly the least). This means they often turn their heads at an angle to see. Sometimes, if the null point means the person has to hold their head in a very awkward position surgery can be considered. This is to move the null point to the centre, so the head and neck can be more comfortable and to maximise the benefit of the null zone.

Nystagmus can vary with age, tiredness, excitement or stress. Depth and distance perception are affected by Nystagmus.

Photophobia

Most people with Albinism will be very sensitive to light. Too much light can enter their eyes due to lack of pigment in the iris and cause discomfort. Using tinted glasses or contact lenses and peaked caps to reduce the glare are the best ways to help. Some families find tinting their car windows to be helpful.Strabismus

This means there is a muscle imbalance within the eyes causing the child to use each eye individually rather than together and sometimes to have a squint. Children with Albinism do not have good binocular vision (the ability to use both eyes at the same time) and may have a squint.

Astigmatism

This means that the surface of the eye is not spherical and there is a distortion of the image seen by the person. Prescription glasses or contact lenses can often help correct this aspect of visual problem.

Short or long sight

People with Albinism may also be short or longsighted just as any other person can be. Prescription glasses can help with this aspect of the person’s vision and it is important to get glasses eabenefitrly on in a child’s life if they are needed. This will help them access the best vision possible as their eyes develop.

Why do people get Albinism?

For Occulocutaneous Albinism, both parents must carry an Albinism gene for their child to be born with Albinism. If neither parent has Albinism themselves but both carry the Albinism gene there is a 1:4 chance of every child they have together being born with Albinism. So, in some families, three out of their four children may have Albinism whilst in another family, just one out of four may have albinism

Diagnosis of Albinism

In most cases, Albinism will be obvious from a baby’s skin, hair and eye colour when they are born but in some cases diagnosis is more complex. A referral to an ophthalmologist is usual for additional tests. Ophthalmologists are doctors who specialise in diagnosing and treating eye conditions. They mainly work in specialist hospitals and hospital eye departments.
During the eye examination, the ophthalmologist may:

  • use eye drops to enlarge the person’s pupils – these sting quite a bit for a few seconds after the initial application but kids cope surprisingly well with this
  • examine the 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.

Electro-diagnostic 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. New evidence has shown that for people with only some of the features of Albinism, the inheritance pattern is a little more complicated. We suggest speaking to a genetics doctor if you have specific questions about this, as knowledge is changing rapidly at the moment.

Skin care

Due to a lack of pigment people with Albinism will find that their skin burns easily in the sun and it is recommended that a high factor (at least 30) UV block sunscreen be used on exposed areas of skin. People with Albinism are at increased risk of developing skin cancer so a good skin protection regime is essential from an early age.

Mr Jay Self, Associate Professor and Consultant Ophthalmologist, examines a child’s eyes in his clinic at Southampton General Hospital

Certificate of Visual Impairment

Most people with Albinism will be eligible to be registered as visually impaired. The process is started by the Ophthalmologist who will issue a certificate stating that the person is either ‘sight impaired’(partially sighted) or ‘severely sight impaired’ (blind). It is important to note that people with Albinism who are registered as ‘severely sight impaired’ still have useable vision but so little as to be ‘legally blind’.

In England and Wales this certificate is called the Certificate of Vision Impairment (CVI). In Scotland it’s called BP1 and in Northern Ireland it’s called A655. It can be useful official evidence of a person’s visual impairment. All local authorities keep a record of residents in their area who have visual impairments. Once a certificate has been issued the person will be contacted by their local authority to ask if they want to be added to their record.

Children with Albinism

It can be a shock for parents when first told that their child has Albinism and they may feel worried about many issues. Talking to other parents through the Albinism Fellowship is one of the best ways to alleviate worries either via Facebook, phone advice line or face-to-face at our friendly gatherings. There is also a support service available via Royal Society for Blind Children. Their website is at: Family-Support-Service.

Development

Children with Albinism usually hit all their developmental milestones such as crawling, walking and talkin within the range of normal to slightly delayed (two to three months behind their fully sighted peers) but there are plenty of examples of babies with Albinism being ahead of their peers as well. For most children, even if there is a delay, it is important to remember that they will get there in the end.

Early intervention

It is a good idea to contact your local council’s sensory impairment team as early as possible and ask to see the QTVI or Qualified Teacher for the Visually Impaired. They will be able to advise you on ways to help stimulate your child’s vision with toys and games and may be able to let you know about sensory room sessions local to you or specialist playgroups.

Nursery and school

Choosing the right nursery or school is important for all children and especially so when you have a child with Albinism. It is likely that staff will not know anything about Albinism so parents have to be prepared to explain, with the help of the QTVI, how the school can best support their child.

Many children at school with Albinism have a Statement of Special Educational Need (SEN) or an Education Health Care Plan (EHCP). These documents are obtained via the local education authority and they set out exactly what specific support a child needs to succeed at school. This can include some one-to-one support for part or all of the school day, providing technology to assist with reading and writing, extra time in tests and exams, ensuring rest breaks and adequate shade. Parents have the right to ask for an assessment of their child’s needs. It can be a difficult process. Sources of advice and help are available. Independent Parental Special Educational Advice (IPSEA) has lots of information including model letters to use www.ipsea.org.uk. Other sources of specialist advice are Guide Dogs children’s services; email cypservices@guidedogs.org.uk.

Social issues

Some children with Albinism may experience name calling and bullying at school and this can be very distressing. It is important that any issues are reported and dealt with as quickly as possible. Due to their poor vision, children may have difficulty reading facial expressions. This can also cause awkwardness in social interactions at times.
Children should be encouraged to be open with their peers about their Albinism. Some parents have sent out letters to their classmates’ families when they start school explaining Albinism and how it affects their child. Some children have done presentations in class, others have shown a video they have made about Albinism during school assembly.

Building confidence and self-esteem are key to ensuring that children with Albinism enjoy school. Finding hobbies and sports that a child can enjoy is a good way of doing this. Many of our members tell us that their children with Albinism have grown in confidence as a result of coming to Albinism Fellowship events and meeting lots of other children with Albinism.

Benefits

Children with Albinism often meet the criteria for Disability Living Allowance. This is a non-means tested state benefit to help with the additional costs of having a disabled child. The rules and rates do change quite frequently. For basic information go to:Overview
Adults over the age of 16 with Albinism often meet the criteria for Personal Independence Payments which is a non-means tested benefit to help with the additional costs of having a long term disability. Again, the rules and rates change quite frequently. For basic information, visit: www.gov.uk/pip/overview
The RNIB Helpline 0303 123 9999 helpline@rnib.org.uk and Action for Blind People www.actionforblindpeople.org.uk are both good sources of specialist help with claiming benefits. The Citizens Advice Bureau can also help with advice on benefits www.citizensadvice.org

Low vision aids

Many people with Albinism find low vision aids extremely useful. These can be monoculars, binoculars or magnifiers and are provided free of charge via your local low vision service. These are often based in hospitals but sometimes elsewhere. Your Ophthalmologist will be able to refer you. The RNIB sell a number of useful items too, visit: www.rnib.org.uk

Useful Organisations

You may need some emotional support, practical benefits guidance, information on accessible sports, help using a cane, advice about education or activities for partially sighted children.

A good starting point is to search in your local area with RNIB Sightline directory using www.sightlinedirectory.org uk but not everything available will come up in the search.

RNIB offers a range of services including running a shop filled with useful gadgets (online purchases are also possible), emotional support, learning disability services and running specialist schools –www.rnib.org.uk

Guidedogs (merged with Blind Children UK) services include:

  • Family support
  • Habilitation support – assessments, mobility, orientation and independence training
  • Customeyes books producing tailor made large print books
  • Education support
  • Access technology assessments and grants
  • Recreational activities
  • Guide dogs and buddy dogs for childrenwww.guidedogs.org.uk

Nystagmus Network is a UK based charity that supports people with Nystagmus and leads research into the condition – nystagmusnetwork.org
Royal Blind Childrens Society runs a national emotional support service and London only based services including Health and well-being sessions, employability support, social and peer groups, supported accommodation at Dorton College, a youth choir, advice and help with benefits –www.rsbc.org.uk.
VICTA run activity holidays for families and trips in UK and abroad for blind and partially sighted young people – www.victa.org.uk.
In Northern Ireland RNIB run local services including:

  • Emotional support
  • Benefits Advice
  • Children & Youth Service

www.rnib.org.uk/northern-ireland

In Northern Ireland – Angel Eyes NI is a parent-led charity offering advice, information and emotional support for anyone with a child who has a life-long eye condition – www.angeleyesni.org

In the Republic of Ireland – NCBI run a range of services including:

  • Assistive technology advice and training
  • Rehabilitation training to aid mobility and independence
  • A library of audio, Braille and large print books
  • Employment support
  • Shop selling aids and appliances
  • Running activity centres

In the Republic of Ireland – Childvision provide assessments, speech and language therapists, occupational therapists, teachers, nurses, Braille specialists, social care workers and pet and equine therapists – childvision.ie.
In the Republic of Ireland – Feach is a parent led support group for families with children who are blind or have visual impairment – www.feach.ie.
In Scotland – Visual Impairment Network for Children & Young People aims to provide information and advice and streamlines referral systems for all children and young people in Scotland with visual impairments –

www.vincyp.scot.nhs.uk.

In Scotland – RNIB run local projects including a youth engagement project, education and family services and IRISS early intervention project for under fives –

www.rnib.org.uk/scotland.

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