Usher Syndrome
Usher Syndrome is a rare genetic condition. Charles Usher was the name of the doctor who first noticed this condition in 1914.
Our hearing and sight are affected by genes and Usher Syndrome is caused by a number of different recessive genes. The recessive genes are passed down through families. If only one partner has the recessive gene their child will not have Usher Syndrome, but if both parents have the gene then the child will be born with Usher Syndrome.
It is estimated that 1 in 100 people carry the recessive gene that causes Usher Syndrome.
The prevalence of Usher syndrome has been reported to range from 3.2 to 6.2 per 100,000 people.
How does is affect people?
There are currently 3 types of Usher Syndrome. Type 1, Type 2 and Type 3. Usher syndrome causes dual sensory loss and effects 3 major senses in the body, a combination of hearing, vision loss and balance.
People with Usher will experience hearing problems from birth either Profound Deafness or Moderate Hearing Loss.
In their teens or twenties deaf people may seem clumsy bumping into lamp posts, falling down steps. Experiencing night-blindness and their ‘field of vision’ is getting smaller, caused by Retinitis Pigmentosa (RP).
Retinitis Pigmentosa (RP) is a disease of the retina cells in the back of the eye, which affect light sensitivity. RP tends to start with night blindness and go on to cause loss of peripheral vision. They will experience temporary blindness when going from a dark place to a bright place.
Hearing Loss can range from profound hearing loss to hard of hearing. Sign language users experience difficulty seeing signs.
Eventually ‘Tunnel Vision’ is experienced and the person has great difficulty seeing furniture, doors etc., but might still be able to read newspaper headlines at the right distance.
Some people retain useful central vision for many years.
Understanding USH Genes
Usher syndrome is classified into several subtypes based on the specific gene involved. Each subtype is linked to a different genetic mutation, with a number of genes currently identified as being associated with the condition.
The most common forms of Usher syndrome are Type 1 and Type 2, while Type 3 is much rarer, accounting for approximately 2–5% of cases. Within Type 1, the USH1B subtype is the most prevalent, making up around 33–50% of these cases, followed by USH1D. In Type 2, USH2A is believed to be the most common gene involved, responsible for up to 85% of cases.
How Usher Syndrome is Inherited
Usher syndrome follows an autosomal recessive pattern of inheritance. This means a person must inherit two copies of the same altered gene—one from each parent—for the condition to be present.
If both parents are carriers of the same USH gene mutation:
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There is a 25% chance their child will have Usher syndrome
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A 50% chance their child will be a carrier (without symptoms)
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And a 25% chance the child will neither be a carrier nor affected
If one parent has Usher syndrome, all of their children will be carriers. However, it's uncommon for someone with USH to have a partner who also carries the same gene mutation, making the likelihood of having a child with Usher syndrome very low in most cases.
For more detailed information about inheritance risks, you should speak to a genetic counsellor, who can provide guidance tailored to your family's circumstances.
Accessing Genetic Testing
If you’ve received a clinical diagnosis of Usher syndrome and want to confirm it through genetic testing, the first step is to contact your GP. They can refer you to a clinical genetics service where a specialist—usually a genetic counsellor—will go over your medical and family history.
A blood sample will typically be taken to screen for changes in the USH genes. This process can take several months. Once results are available, your genetics specialist will review them with you and offer any appropriate advice.
We strongly recommend keeping a secure copy of your genetic testing results. These may be needed in the future if you wish to take part in research or clinical trials, or to join a patient registry.
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Molly Watt Trust - Map of US - Usher Syndrome
Our friends at The Molly Watt Trust work to raise awareness of Usher Syndrome. They are dedicated to connecting individuals, families, and communities impacted by this rare genetic condition.
You can join their ever-expanding network and become a part of the positive change they're striving to make in Usher Syndrome awareness. They work tirelessly to raise awareness, provide support, and advocate for inclusivity and assistive technologies.
"By being a part of our network, you’re not just a spectator; you’re an active contributor to a brighter future for those affected by Usher Syndrome."
Map of US
The Map of Us was set up to connect us and born out of need. In the 17 years of our involvement with Usher Syndrome there has never been a realtime map of our community! ‘Usher is rare was always the line!’
The map continues to grow as more people living with Usher place themselves on the map!
Usher Syndrome Links
Usher Syndrome Medical Information
GARD Rare Disease Information - Usher syndrome, type 1B - National Organization for Rare Disorders (rarediseases.org)
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From the National Organisation for Rare Disorders (NORD), this page provides a overview of Usher syndrome type 1B. It covers the symptoms, inheritance patterns and medical definitions of this specific genetic condition.
Review of Genotype-Phenotype Correlations in Usher Syndrome - PubMed (nih.gov)
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This is a scientific research article from PubMed, a database of biomedical literature. It explains into the complex genetic factors of Usher syndrome, explaining how different gene mutations (genotype) can lead to varying symptoms and severity (phenotype). This is a resource for those interested in the scientific and medical details of the condition.
Retinitis Pigmentosa | Causes, Symptoms and Treatment | Fight for Sight
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A resource from the UK based charity Fight for Sight, which focuses on research to prevent sight loss. This page explains Retinitis Pigmentosa, a group of genetic eye disorders that cause progressive vision loss and is a core component of Usher syndrome. It covers the symptoms, causes and available treatments, providing a noverview for those newly diagnosed or seeking more information.
Usher Syndrome Coalition USH Partners (usher-syndrome.org)
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The Usher Syndrome Coalition is a global organisation dedicated to driving research and providing information and support to individuals and families affected by Usher syndrome. This specific page highlights their collaborations with various partners to extend their reach and amplify awareness efforts.
Deaf Culture and Media
A collection of videos on the Vimeo platform that provides facts surrounding British Sign Language (BSL).
Meet: John Denerley, the Deaf David Attenborough! | The Limping Chicken
A piece from The Limping Chicken, a popular online Deaf blog and news site. The article introduces John Denerley, a Deaf wildlife enthusiast and photographer, often referred to as "the Deaf David Attenborough" and shares his journey and passion for the natural world.
Solar Flares - Deaf Heritage - (sfdh.org.uk)
This is a website dedicated to exploring Deaf heritage in Scotland, created and developed by the Deaf community. It features various projects and stories related to Deaf clubs, communication, sports and arts, offering an insight into the history and culture of Deaf people in Scotland.
Support & Education for Children and Families
GIRFEC principles and values - Getting it right for every child (GIRFEC) - gov.scot (www.gov.scot)
GIRFEC is a Scottish Government initiative that promotes a collaborative approach to ensuring every child and young person grows up "loved, safe and respected so they reach their full potential." This link explains the core principles and values of the framework, which is fundamental to services for children in Scotland, including those with additional support needs.
Mental Health in Deaf Children - ACAMH
A resource from the Association for Child and Adolescent Mental Health (ACAMH). This page provides information and guidance on the unique mental health challenges faced by Deaf children and young people. It covers topics like spotting the signs of struggle and offering supportive resources for parents, carers and professionals.
Signed Stories is a platform that adapts children's books into videos using sign language and narrations. This link is for the signed version of "It's Okay to Be Different" by Todd Parr, a picture book that delivers a message of acceptance and diversity in a fun and accessible format.
Professional and Community Resources
Scottish Sensory Centre: Library (ed.ac.uk)
The Scottish Sensory Centre promotes and supports the education of children and young people with sensory impairments. It specialises in books, periodicals, video and assessments which deal with sensory impairment and related issues. Anyone interested in the education of children with sensory impairment will find the library an invaluable resource.
Local peer support groups - Retina UK
Retina UK is a charity dedicated to inherited sight loss. This page provides information about their network of local and online peer support groups. These groups offer a welcoming space for individuals with inherited sight loss and their families to share experiences, gain support and form friendships.
Are you Usher aware? – Usher Ireland
The "Are You Usher Aware?" campaign from Usher Syndrome Ireland is a fantastic initiative aimed at healthcare professionals to address the under-recognition of Usher Syndrome. By providing a free awareness pack, the campaign hopes to equip professionals with the knowledge to identify, refer, and support patients confidently. This is a crucial step in improving clinical management and patient support.
Experiences of a Grandfather and Grandchild with Usher Syndrome
I am the grandfather of an eight-year-old girl who was diagnosed with Ushers 1B when she was 4 years old. Initially she was found to be deaf and uses hearing aids. Genetic testing was suggested and eventually her parents met with the geneticist for the results. They were told the diagnosis, that this explained the hearing loss and that she would likely lose her sight at some stage in the future – no other details or information were given.
What do you wish you’d known at the time?
Anything at all about what Usher Syndrome was, what the future held, was there support and information?
What support have you found useful?
I searched for more information and read countless articles and eventually found Deafblind Scotland. I found the information from Ushers Kids to be the most useful. The many academic articles are not really much use as the condition is rare and it would seem that the disease progression varies hugely in those with the same genetic fault. All the information has just added to the uncertainty about the future and does not really provide information about what to do ‘now’.
Our granddaughter was part of the many children in Lothian whose deafness was late diagnosed and I set up a pressure group that became a peer support group for children and parents. This has been very supportive and my granddaughter benefits greatly. The resources and support generally for deaf children are quite good – we have an excellent teacher of the deaf and the school have been great. However, she is the only deaf child in her primary school – so everyone is learning. It is impossible to know at the moment, but she may well be the only Ushers child in her council area.
There are a number of people on Social Media – Facebook especially who are deafblind and whose stories and life experiences are inspirational. Molly Watt is just great, her blog leaves you feeling that anything is possible regardless of loss of senses: https://www.facebook.com/mollywatttalks
Usher Syndrome is a rare condition – but social media helps reduce the feelings of isolation.
Your thoughts as a grandparent?
As a grandparent, I have more time to look for information and I think a little more distance to try and make sense of the situation. Her parents are experiencing a mixture of emotional distress and denial. The deafness is obvious, and adjustments have had to be made – basic BSL is being learnt – although classes are hard to find – other than online which is hopeless for a young child. The whole family is now quite deaf aware.
What is so very hard to deal with is the not knowing what the future holds. We don’t know when and what to tell our little girl – obviously all she knows at the moment is that she is deaf.
We are investing a lot of time in giving her the best childhood experiences we can. She is an only child and see her more than our other two grandchildren which can cause family tensions. We try to encourage her to be independent and to persevere when things are difficult.
I think that her parents can really only cope with what is in front of them – we rarely discuss the future implications of the diagnosis. It is a lot to try and come to terms with the fact that your child has a disability – and that the full extent will be greater at some unspecified time in the future.
Any hints and tips you’d like to share with other deafblind people who are going through diagnosis or are starting to loose one or both of their senses?
With very young children I think all you can do is to work with what is happening at that moment – take as much help and support as you can from the appropriate.
Avail yourselves of all the help you can get – especially the specialist teachers that all education departments have.
Don’t be afraid to ask questions and to speak up for you grandchild and their parents.
The most helpful thing I have done is to engage with Deafblind Scotland and meet many inspirational deafblind adults who are loving life. Whilst we are all different it is encouraging to see and hear about people who have lost both senses.
The Usher Kids UK website is the best starting point for Ushers help and information. Usher Kids UK There are personal stories, accurate information and helpful advice.