Usher syndrome

kat05

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Hello, I would like to ask whether there is any experience with Usher... my son is 4 years old, has a cochlear implant and some difficulties in balance. He was also diagnosed with myopia. Genetic testing came out OK. Doctors insist that there is no reason to worry but I read about Usher and Iam preoccupied.
 
If the genetic testing came out ok then your son doesn't have Usher syndrome. His balance issues could be from his hearing problem or cochlear implant. People with Usher basically have retinitis pigmentosa which is a degeneration of the retina and hearing loss, your son has hearing loss and myopia(nearsightedness). Follow the doctors orders and stop worrying.
 
If the genetic testing came out ok then your son doesn't have Usher syndrome. His balance issues could be from his hearing problem or cochlear implant. People with Usher basically have retinitis pigmentosa which is a degeneration of the retina and hearing loss, your son has hearing loss and myopia(nearsightedness). Follow the doctors orders and stop worrying.

Not really accurate. Some forms of Usher are pinpointed genetically, but there are still more not found yet.

So at the moment, it really is more wait and see .
 
If the genetic testing came out ok then your son doesn't have Usher syndrome. His balance issues could be from his hearing problem or cochlear implant. People with Usher basically have retinitis pigmentosa which is a degeneration of the retina and hearing loss, your son has hearing loss and myopia(nearsightedness). Follow the doctors orders and stop worrying.

I had genetic testing when I was 3 years old and it was all normal.

but 10 years later, I got diagnosed with Usher Syndrome Type II when I was 13 years old, but not know until I was 18 years old because my parent didn't want tell me because they know that I will be very depressed and hopeless.

The bad balance can be part of Usher Syndrome.
 
Hello, I would like to ask whether there is any experience with Usher... my son is 4 years old, has a cochlear implant and some difficulties in balance. He was also diagnosed with myopia. Genetic testing came out OK. Doctors insist that there is no reason to worry but I read about Usher and Iam preoccupied.

Do your son has difficulty to see at night? You may need test him to see at night in bedroom or take outside to give describe of shape or color.

It looks like you may need find retina specialist to get retina checked.
 
Is it possible that the difficulty to see at night occurs later on?
 
Is it possible that the difficulty to see at night occurs later on?

Yes, depending upon which type of Usher's , it affects how fast and how early the retinitis pigmentosa occurs.
 
Thank you Bottesini. What about gene treatment? Are there any promising news for the cure of the vision loss? I really do not know where do get an ERG I guess at special hospitals right?
 
Thank you Bottesini. What about gene treatment? Are there any promising news for the cure of the vision loss? I really do not know where do get an ERG I guess at special hospitals right?

Not yet. Very little treatment, and that only experimental.
 
What about vitamin A to slow down the vision loss? I read it on the internet
 
There are seven subtypes in type 1, so that would really depend.

But commonly in adolescence.

I heard about some US cases are diagnosed at 6 years old.

I had my retina checked when I was 6 years old in 1994 and the specialist couldn't find US until I got other retina checkup when I was 13 years old.
 
What about vitamin A to slow down the vision loss? I read it on the internet

It could be, but I can't take Vitamin A anymore due to stomach issue.

Do not start Vitamin A until your doctor tell to do it.
 
I know it may be old, but I have to update - I got diagnosed with Usher syndrome Type 1 last year from specialized genetic testing that was much different from routine genetic testing that I had one at primary doctor.

Hello, I would like to ask whether there is any experience with Usher... my son is 4 years old, has a cochlear implant and some difficulties in balance. He was also diagnosed with myopia. Genetic testing came out OK. Doctors insist that there is no reason to worry but I read about Usher and Iam preoccupied.

The genetic test in primary doctor didn't test Usher Syndrome and RP so you need to see a genetic specialist at eye doctor to do specialized genetic testing.

If the genetic testing came out ok then your son doesn't have Usher syndrome. His balance issues could be from his hearing problem or cochlear implant. People with Usher basically have retinitis pigmentosa which is a degeneration of the retina and hearing loss, your son has hearing loss and myopia(nearsightedness). Follow the doctors orders and stop worrying.

See above - Usher Syndrome and RP can be detected via specialized or customized genetic testing, not routine testing.

I do recommended to see retina specialist as soon as you can.
 
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