July 10, 2025 • 11 mins
Usher Syndrome: What is it? What causes it? And what are the types? In this episode, we will discuss the history of Usher Syndrome, how it is currently managed, and the symptoms of usher syndrome.
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Resources:
Usher Syndrome Coalition: https://www.usher-syndrome.org/
Usher Syndrome Society (US): https://www.ushersyndromesociety.org/
Usher Kids UK: https://www.usherkidsuk.org/
Usher Kids Australia: https://usherkidsaustralia.com/
References:
https://pmc.ncbi.nlm.nih.gov/articles/PMC8788290/
https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/usher-syndrome
https://www.medschool.lsuhsc.edu/genetics/usher_syndrome1.aspx
https://my.clevelandclinic.org/health/diseases/15046-usher-syndrome
https://www.hopkinsmedicine.org/health/conditions-and-diseases/usher-syndrome
https://www.cera.org.au/conditions/usher-syndrome-ush/
https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/usher-syndrome
https://medlineplus.gov/genetics/condition/usher-syndrome/
https://www.today.com/health/disease/rebecca-alexander-usher-syndrome-rcna152435
https://www.news-medical.net/health/What-is-Usher-Syndrome.aspx
https://www.paralympic.org.au/athlete/katie-kelly/
https://triathlon.org/athletes/profile/93586/katie-kelly-b3
https://www.newbornhearingscreening.com.au/parents/#toggle-id-1
*This podcast is for entertainment purposes only. If you suspect you have a medical condition, please seek out an opinion of a medical professional.*
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Transcript
Episode Transcript
Available transcripts are automatically generated. Complete accuracy is not guaranteed.
(00:00):
You have just returned to the hospital
(00:01):
with your adorable baby girl, Rose.
She failed her newborn hearing test,
but your doctor said it was nothing to worry about
as it was most likely just some fluid in her ears.
The person screening your daughter
took her for about 10 minutes.
Returning with the doctor,
both having a concerned look.
They sit down next to you.
The doctor handing you Rose.
He says, 'I am sorry, but we need to run some more tests.'
(00:24):
(upbeat music)
(upbeat music continues)
Hello and Welcome to Anatomy Of Illness.
Today's episode is about Usher syndrome.
Before we get into the condition,
(00:45):
we are going to start with a history.
So why do we know Usher syndrome exists?
We begin in the year 1854 with Albrecht von Gräfe.
He would actually be the first
to discuss the symptoms of Usher syndrome.
He would describe this in a patient who was deaf
and had visual impairments,
as well as two brothers with the same symptoms.
Von Gräfe would use this to hint a genetic link
(01:06):
between the symptoms and the condition.
His student, Richard Leibreich,
would study the condition in more detail
and would suggest the inheritance pattern,
claiming that it was inherited recessively.
However, this condition is not named von Gräfe syndrome,
nor would it be called Leibreich syndrome.
So another would be recognised
for the description of this condition.
This would be in 1914.
(01:26):
This was with the Scottish ophthalmologist, Charles Howard Usher.
He would describe 69 cases of retinitis pigmentosa
in an article titled,
"On the inheritance of retinitis pigmentosa
with notes of cases."
In this, there would be several cases
that were not just retinitis pigmentosa,
which is an associated eye condition causing blindness
(01:47):
due to damage to the retina.
We discussed this in episode 24.
Instead, they would actually be Usher syndrome.
He would describe the inheritance pattern of this
and the symptoms which would lead
to the condition being named after him.
With this, there would be little more
in the way of history of the condition,
being an incredibly rare disease
with little in the way of understanding
until more recent times.
(02:08):
If you have been enjoying this episode,
you should share it with a friend as it helps us grow.
What causes Usher syndrome?
Usher syndrome is a genetic condition.
It is believed that there are actually 15 genes
that can cause the development of Usher syndrome.
These are inherited in an autosomal recessive pattern.
So for this, you need one gene from each parent
to display symptoms of the condition.
(02:28):
When it comes to the mutations,
where the mutations affect will cause
a different presentation of Usher syndrome.
So for example, hearing loss will be worse
if those genetic mutations affect the nerve cells
of the cochlea, so the inner ear nerve cells.
This is due to the sound not being transmitted correctly
by these cells.
If the mutation affects the retina's light sensing cells,
(02:50):
these are the rods and cones,
it can cause retinitis pigmentosa.
If you remember this condition from episode 24 again,
if not, it is a rare degenerative eye condition
that causes vision loss and visual impairment.
What are the types of Usher syndrome?
Usher syndrome has three main types,
each with their own subtypes of the condition.
These are Usher syndrome type one.
(03:10):
This form has six subtypes that have been identified.
The symptoms that are often found
with this form of Usher syndrome
are being profoundly deaf from birth,
having difficulties with speech.
With this form, balance can be affected.
It can also lead to children with this form to be delayed
when it comes to sitting, standing, and walking.
Eye problems with this form can vary.
(03:30):
However, the development of eye conditions
normally occur before the age of 10 years old.
With this type, vision loss will also vary.
However, it will develop within the first 10 years of age.
There is also type two of Usher syndrome.
With this type, there are three subtypes.
This form causes hearing loss,
more specifically moderate hearing loss
in the lower sound frequency range,
(03:51):
and severe hearing loss in the higher sound frequency range.
In the later years, balance can also be affected.
During the teenage years, vision loss can occur.
This may be things like blind spots.
This can also progress later in life as well.
Type two is the most common form of Usher syndrome,
with about 60% of people having this form.
Finally, there is type three of Usher syndrome.
(04:12):
This form only has one subtype.
Usher syndrome type three is the rarest
of the forms of Usher syndrome.
The characteristics we see with Usher syndrome type three
are being of Finnish descent.
Yes, most people with this form of Usher syndrome
have Finnish ancestry.
With this form, most of the characteristics
are not all that visible at birth.
So they begin with close to normal hearing
(04:34):
and close to normal balance.
As they age, the hearing loss becomes more visible,
this being especially evident during puberty.
With this form, vision loss normally starts
in the teenage years.
This can worsen as they get older.
With this form, balance also gets worse as they age.
How common is Usher syndrome?
Usher syndrome is a rare condition.
It affects between three and six out of 100,000 people.
(04:57):
How do we diagnose Usher syndrome?
Depending on the country, newborns are often screened
at birth for hearing issues.
If there is a problem found during the screening process,
then the child would be retested.
The child would also have their vision
and their balance tested.
During the diagnostic phase for Usher syndrome,
there are several tests that can be run.
These include hearing evaluation.
This is done by a hearing specialist.
(05:19):
With this, they will check the ear
and run various tests that can check the child's hearing.
So this will allow us to understand
what frequencies the child can hear.
Eye exam.
So with this, they will check the retina for damage.
Electroretinography.
This is a test that can check
how the retina responds to light.
This is used to diagnose retinitis pigmentosa,
which again is linked with Usher syndrome.
(05:41):
Vision tests.
These are done to test how well the child can see.
Electronystagmography.
This is a test used to test for balance problems.
Genetic tests.
This can help identify what gene
is causing the Usher syndrome symptoms.
We will get right into the symptoms
and presentation right after this little break.
(upbeat music)
(06:01):
This podcast is supported by listeners like you
on Buy Me a Coffee.
What symptoms might your child experience
if they had Usher syndrome?
The symptoms that your child may have are hearing loss.
Your child can either be born deaf
(06:23):
or with severe hearing loss,
or they can experience moderate hearing loss later in life.
Balance issues.
Depending on the form of Usher syndrome,
balance issues can be more severe.
With this, it can also take longer
for them to learn how to walk.
Vision loss.
Children with Usher syndrome have another condition
called retinitis pigmentosa.
This causes the vision loss they experience.
(06:43):
This causes symptoms in stages.
The first symptoms of retinitis pigmentosa
include difficulty seeing in low light.
This is also known as night blindness.
This eventually leads to tunnel vision,
which is the loss of peripheral or side vision.
In some, this can also lead to blindness.
What complications should a doctor be aware of
when it comes to Usher syndrome?
When it comes to Usher syndrome,
(07:04):
the main concerns a doctor should be aware of
is blindness and deafness.
Usher syndrome causes profound hearing loss
in both type one and type three.
With type two, it varies more widely across families.
Again, the amount of hearing loss and what kind,
so what frequencies they can hear,
will always depend on the child and the family in all types,
but is more common to have profound hearing loss,
(07:25):
so basically total hearing loss in type one and type three.
Vision loss.
Due to retinitis pigmentosa occurring with Usher syndrome,
blindness is often associated with the condition.
Depending on the person depends on their visual impairment,
as being blind or visually impaired is a scale.
It's not just seeing black
as soon as you're labeled legally blind.
You can see either shapes,
(07:45):
you know, it really depends on the person.
So with both the visual impairment and the hearing loss,
finding other ways to help communicate may be necessary.
As a doctor, potentially referring them
to speech therapy type services or other services
that may help, like occupational therapy,
that can potentially teach other forms of communication.
Also having other forms of education like braille
and sign language may help.
(08:06):
Occupational and physical therapy can also help
with the management of balance and vestibular issues.
So potentially referring them out to these services.
How do we treat Usher syndrome?
Usher syndrome is not currently a curable condition.
However, it is currently manageable
with medical devices and various supports.
The type of support will vary based on the symptom
you are trying to manage and the type of Usher syndrome.
(08:28):
For example, with hearing, cochlear implants
may be recommended in Usher syndrome type one,
as these are recommended for babies with severe hearing loss,
which is what we find in Usher syndrome type one.
Hearing aids may be recommended
in Usher syndrome type two and type three,
as hearing aids are useful for cases
of mild to moderate hearing loss
that is experienced in these two types,
as they do not progress as early as type one.
(08:51):
Visual aids.
So this can be things like glasses
that either filter light or help to magnify things.
This helps with the visual impairment
that the different types of Usher syndrome can cause.
Other aids for visual impairment also can be helpful.
So this can be things like guide dogs,
as it may be difficult to navigate
being visually impaired with Usher syndrome.
Are there any famous people with Usher syndrome?
(09:12):
Yes, there is the Australian Paralympian, Katie Kelly.
She has won several gold medals as a triathlete,
including the 2016 Rio Paralympics.
If you would like to read a book
featuring the story of someone with Usher syndrome,
there is "Not Fade Away:
A Memoir of Senses Lost and Found."
This is by Rebecca Alexander and Sacsha Alper.
This is the story of Rebecca Alexander,
(09:34):
who was diagnosed with Usher syndrome type three
at the age of 19 after years of vision loss and hearing loss.
She was previously diagnosed with retinitis pigmentosa
at the age of 12 after having trouble seeing the blackboard.
If you would like to check out an episode of a TV show,
there is "Chicago Med," season four, episode one,
"Be My Better Half."
In this episode, the doctors encounter a patient
(09:55):
who went deaf at the age of 14.
Originally, the deafness was blamed on a different condition.
However, when he starts to suffer from other symptoms,
it leads to his real diagnosis.
If you would like to check out a foundation,
there is the Usher Syndrome Coalition.
This is a global foundation.
It links those with Usher syndrome to research,
resources, and others experiencing Usher syndrome.
(10:16):
For those in the US, there is the Usher Syndrome Society.
This foundation shares the stories of those
who are experiencing Usher syndrome through film,
photo journalism, and immersive experiences
to spread awareness of the condition,
as well as what it is like to experience Usher syndrome.
They also help to raise funds
towards research into Usher syndrome.
For those in the UK, there is Usher Kids UK.
(10:37):
They provide support to children
and their families experiencing Usher syndrome.
They also provide information and connection
with others who have the condition.
For those in Australia, there is Usher Kids Australia.
Their goal is to support the needs of children
who are experiencing Usher syndrome
along with their families.
If you want to check out the sources, social medias,
or any other links, you can head to anatomyofillness.com.
If you enjoyed this episode and would like to hear more,
(10:59):
subscribe to be notified about our latest episodes.
If you want to join our community,
you can join us on Discord or Instagram.
Otherwise, stick around for the next episode.
(upbeat music)
Did you know the cells inside of the ears
(11:22):
responsible for hearing are known as hair cells?
These are different from the cells that grow on your head.
The hair cells in your ear are very delicate nerve cells
that are important for balance as well.
However, once broken, they stay that way.
look after your ears by avoiding loud noise or wearing ear protection when you cannot.
You have just returned to the hospital
(00:01):
with your adorable baby girl, Rose.
She failed her newborn hearing test,
but your doctor said it was nothing to worry about
as it was most likely just some fluid in her ears.
The person screening your daughter
took her for about 10 minutes.
Returning with the doctor,
both having a concerned look.
They sit down next to you.
The doctor handing you Rose.
He says, 'I am sorry, but we need to run some more tests.'
(00:24):
(upbeat music)
(upbeat music continues)
Hello and Welcome to Anatomy Of Illness.
Today's episode is about Usher syndrome.
Before we get into the condition,
(00:45):
we are going to start with a history.
So why do we know Usher syndrome exists?
We begin in the year 1854 with Albrecht von Gräfe.
He would actually be the first
to discuss the symptoms of Usher syndrome.
He would describe this in a patient who was deaf
and had visual impairments,
as well as two brothers with the same symptoms.
Von Gräfe would use this to hint a genetic link
(01:06):
between the symptoms and the condition.
His student, Richard Leibreich,
would study the condition in more detail
and would suggest the inheritance pattern,
claiming that it was inherited recessively.
However, this condition is not named von Gräfe syndrome,
nor would it be called Leibreich syndrome.
So another would be recognised
for the description of this condition.
This would be in 1914.
(01:26):
This was with the Scottish ophthalmologist, Charles Howard Usher.
He would describe 69 cases of retinitis pigmentosa
in an article titled,
"On the inheritance of retinitis pigmentosa
with notes of cases."
In this, there would be several cases
that were not just retinitis pigmentosa,
which is an associated eye condition causing blindness
(01:47):
due to damage to the retina.
We discussed this in episode 24.
Instead, they would actually be Usher syndrome.
He would describe the inheritance pattern of this
and the symptoms which would lead
to the condition being named after him.
With this, there would be little more
in the way of history of the condition,
being an incredibly rare disease
with little in the way of understanding
until more recent times.
(02:08):
If you have been enjoying this episode,
you should share it with a friend as it helps us grow.
What causes Usher syndrome?
Usher syndrome is a genetic condition.
It is believed that there are actually 15 genes
that can cause the development of Usher syndrome.
These are inherited in an autosomal recessive pattern.
So for this, you need one gene from each parent
to display symptoms of the condition.
(02:28):
When it comes to the mutations,
where the mutations affect will cause
a different presentation of Usher syndrome.
So for example, hearing loss will be worse
if those genetic mutations affect the nerve cells
of the cochlea, so the inner ear nerve cells.
This is due to the sound not being transmitted correctly
by these cells.
If the mutation affects the retina's light sensing cells,
(02:50):
these are the rods and cones,
it can cause retinitis pigmentosa.
If you remember this condition from episode 24 again,
if not, it is a rare degenerative eye condition
that causes vision loss and visual impairment.
What are the types of Usher syndrome?
Usher syndrome has three main types,
each with their own subtypes of the condition.
These are Usher syndrome type one.
(03:10):
This form has six subtypes that have been identified.
The symptoms that are often found
with this form of Usher syndrome
are being profoundly deaf from birth,
having difficulties with speech.
With this form, balance can be affected.
It can also lead to children with this form to be delayed
when it comes to sitting, standing, and walking.
Eye problems with this form can vary.
(03:30):
However, the development of eye conditions
normally occur before the age of 10 years old.
With this type, vision loss will also vary.
However, it will develop within the first 10 years of age.
There is also type two of Usher syndrome.
With this type, there are three subtypes.
This form causes hearing loss,
more specifically moderate hearing loss
in the lower sound frequency range,
(03:51):
and severe hearing loss in the higher sound frequency range.
In the later years, balance can also be affected.
During the teenage years, vision loss can occur.
This may be things like blind spots.
This can also progress later in life as well.
Type two is the most common form of Usher syndrome,
with about 60% of people having this form.
Finally, there is type three of Usher syndrome.
(04:12):
This form only has one subtype.
Usher syndrome type three is the rarest
of the forms of Usher syndrome.
The characteristics we see with Usher syndrome type three
are being of Finnish descent.
Yes, most people with this form of Usher syndrome
have Finnish ancestry.
With this form, most of the characteristics
are not all that visible at birth.
So they begin with close to normal hearing
(04:34):
and close to normal balance.
As they age, the hearing loss becomes more visible,
this being especially evident during puberty.
With this form, vision loss normally starts
in the teenage years.
This can worsen as they get older.
With this form, balance also gets worse as they age.
How common is Usher syndrome?
Usher syndrome is a rare condition.
It affects between three and six out of 100,000 people.
(04:57):
How do we diagnose Usher syndrome?
Depending on the country, newborns are often screened
at birth for hearing issues.
If there is a problem found during the screening process,
then the child would be retested.
The child would also have their vision
and their balance tested.
During the diagnostic phase for Usher syndrome,
there are several tests that can be run.
These include hearing evaluation.
This is done by a hearing specialist.
(05:19):
With this, they will check the ear
and run various tests that can check the child's hearing.
So this will allow us to understand
what frequencies the child can hear.
Eye exam.
So with this, they will check the retina for damage.
Electroretinography.
This is a test that can check
how the retina responds to light.
This is used to diagnose retinitis pigmentosa,
which again is linked with Usher syndrome.
(05:41):
Vision tests.
These are done to test how well the child can see.
Electronystagmography.
This is a test used to test for balance problems.
Genetic tests.
This can help identify what gene
is causing the Usher syndrome symptoms.
We will get right into the symptoms
and presentation right after this little break.
(upbeat music)
(06:01):
This podcast is supported by listeners like you
on Buy Me a Coffee.
What symptoms might your child experience
if they had Usher syndrome?
The symptoms that your child may have are hearing loss.
Your child can either be born deaf
(06:23):
or with severe hearing loss,
or they can experience moderate hearing loss later in life.
Balance issues.
Depending on the form of Usher syndrome,
balance issues can be more severe.
With this, it can also take longer
for them to learn how to walk.
Vision loss.
Children with Usher syndrome have another condition
called retinitis pigmentosa.
This causes the vision loss they experience.
(06:43):
This causes symptoms in stages.
The first symptoms of retinitis pigmentosa
include difficulty seeing in low light.
This is also known as night blindness.
This eventually leads to tunnel vision,
which is the loss of peripheral or side vision.
In some, this can also lead to blindness.
What complications should a doctor be aware of
when it comes to Usher syndrome?
When it comes to Usher syndrome,
(07:04):
the main concerns a doctor should be aware of
is blindness and deafness.
Usher syndrome causes profound hearing loss
in both type one and type three.
With type two, it varies more widely across families.
Again, the amount of hearing loss and what kind,
so what frequencies they can hear,
will always depend on the child and the family in all types,
but is more common to have profound hearing loss,
(07:25):
so basically total hearing loss in type one and type three.
Vision loss.
Due to retinitis pigmentosa occurring with Usher syndrome,
blindness is often associated with the condition.
Depending on the person depends on their visual impairment,
as being blind or visually impaired is a scale.
It's not just seeing black
as soon as you're labeled legally blind.
You can see either shapes,
(07:45):
you know, it really depends on the person.
So with both the visual impairment and the hearing loss,
finding other ways to help communicate may be necessary.
As a doctor, potentially referring them
to speech therapy type services or other services
that may help, like occupational therapy,
that can potentially teach other forms of communication.
Also having other forms of education like braille
and sign language may help.
(08:06):
Occupational and physical therapy can also help
with the management of balance and vestibular issues.
So potentially referring them out to these services.
How do we treat Usher syndrome?
Usher syndrome is not currently a curable condition.
However, it is currently manageable
with medical devices and various supports.
The type of support will vary based on the symptom
you are trying to manage and the type of Usher syndrome.
(08:28):
For example, with hearing, cochlear implants
may be recommended in Usher syndrome type one,
as these are recommended for babies with severe hearing loss,
which is what we find in Usher syndrome type one.
Hearing aids may be recommended
in Usher syndrome type two and type three,
as hearing aids are useful for cases
of mild to moderate hearing loss
that is experienced in these two types,
as they do not progress as early as type one.
(08:51):
Visual aids.
So this can be things like glasses
that either filter light or help to magnify things.
This helps with the visual impairment
that the different types of Usher syndrome can cause.
Other aids for visual impairment also can be helpful.
So this can be things like guide dogs,
as it may be difficult to navigate
being visually impaired with Usher syndrome.
Are there any famous people with Usher syndrome?
(09:12):
Yes, there is the Australian Paralympian, Katie Kelly.
She has won several gold medals as a triathlete,
including the 2016 Rio Paralympics.
If you would like to read a book
featuring the story of someone with Usher syndrome,
there is "Not Fade Away:
A Memoir of Senses Lost and Found."
This is by Rebecca Alexander and Sacsha Alper.
This is the story of Rebecca Alexander,
(09:34):
who was diagnosed with Usher syndrome type three
at the age of 19 after years of vision loss and hearing loss.
She was previously diagnosed with retinitis pigmentosa
at the age of 12 after having trouble seeing the blackboard.
If you would like to check out an episode of a TV show,
there is "Chicago Med," season four, episode one,
"Be My Better Half."
In this episode, the doctors encounter a patient
(09:55):
who went deaf at the age of 14.
Originally, the deafness was blamed on a different condition.
However, when he starts to suffer from other symptoms,
it leads to his real diagnosis.
If you would like to check out a foundation,
there is the Usher Syndrome Coalition.
This is a global foundation.
It links those with Usher syndrome to research,
resources, and others experiencing Usher syndrome.
(10:16):
For those in the US, there is the Usher Syndrome Society.
This foundation shares the stories of those
who are experiencing Usher syndrome through film,
photo journalism, and immersive experiences
to spread awareness of the condition,
as well as what it is like to experience Usher syndrome.
They also help to raise funds
towards research into Usher syndrome.
For those in the UK, there is Usher Kids UK.
(10:37):
They provide support to children
and their families experiencing Usher syndrome.
They also provide information and connection
with others who have the condition.
For those in Australia, there is Usher Kids Australia.
Their goal is to support the needs of children
who are experiencing Usher syndrome
along with their families.
If you want to check out the sources, social medias,
or any other links, you can head to anatomyofillness.com.
If you enjoyed this episode and would like to hear more,
(10:59):
subscribe to be notified about our latest episodes.
If you want to join our community,
you can join us on Discord or Instagram.
Otherwise, stick around for the next episode.
(upbeat music)
Did you know the cells inside of the ears
(11:22):
responsible for hearing are known as hair cells?
These are different from the cells that grow on your head.
The hair cells in your ear are very delicate nerve cells
that are important for balance as well.
However, once broken, they stay that way.
look after your ears by avoiding loud noise or wearing ear protection when you cannot.
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