Blind and Visually Impaired Community
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Retinitis Pigmentosa/ Usher Syndrome (3yr Old) (self.Blind)
submitted by Murky_Use4398
Hi, my daughter is 3 yrs old and was diagnosed with bilateral profound sensorineural hearing loss. She was implanted with cochlear implants when she was around 1yrs old. Her hearing and speaking are in level to her age.
A year back we noticed she was having difficulty in seeing at low/dim light. We booked an appointment with the eye clinic and they did the electroretinogram test. My daughter did not at all co-operate with the test, but they did manage to take a few photos. The clinic told us to take the test again in 6 months time. They also said her eyes definitely have problem and only after repeating the test again we will know for sure.
We did a comprehensive genetic testing for our daughter to find the cause of deafness. The results came back negative.
https://blueprintgenetics.com/tests/panels/ear-nose-throat/comprehensive-hearing-loss-and-deafness-panel
My spouse and I also had our genetic testing done and it also came back negative.
https://eugenelabs.com/carrier/diseases/
All of us had negative results for usher syndrome and retinitis pigmentosa.
What could it be?
A year back we noticed she was having difficulty in seeing at low/dim light. We booked an appointment with the eye clinic and they did the electroretinogram test. My daughter did not at all co-operate with the test, but they did manage to take a few photos. The clinic told us to take the test again in 6 months time. They also said her eyes definitely have problem and only after repeating the test again we will know for sure.
We did a comprehensive genetic testing for our daughter to find the cause of deafness. The results came back negative.
https://blueprintgenetics.com/tests/panels/ear-nose-throat/comprehensive-hearing-loss-and-deafness-panel
My spouse and I also had our genetic testing done and it also came back negative.
https://eugenelabs.com/carrier/diseases/
All of us had negative results for usher syndrome and retinitis pigmentosa.
What could it be?
dkmsixty 1 points 2y ago
So my son (6) was diagnosed with Moderate to Severe Sensorineural hearing loss in the left ear and Severe to Profound sensorineural hearing loss in his right ear @ 18 months. Hes had hearing aids since 2 and he recently received a cochlear implant in his right ear. Between 18 months and 2 years old we had genetic testing completed and everything came back negative.
In order to get him approved for the cochlear implant we had to go through all the testing all over again. This time around different genetic testing was done.
The test performed was a "OtoSCOPE v9 Gene Panel (224 genes): Comprehensive Next-Generation Sequencing (NGS) panel and copy number variant analysis
This time around, they found 2 variants in the MYO7A gene. The results are consistent with autosomal recessive non-syndromic hearing loss OR Usher Syndrome type 1B.
Sorry, semi- vent... Anyways, I guess my point would be that you'd have to ensure that the genetic testing covers a wide number of genes? I'm not sure if i'm saying that right... EDIT:: It looks like the genetic testing you undertook was pretty extensive.
During my research of Usher Syndrome, it seems that people still come back with good gene testing results implying that we still don't know all of the genes that may cause Usher Syndrome.
Did they offer / ask to do a test under sedation? We're currently looking for a specialist and was wondering if the sedated route is better
In order to get him approved for the cochlear implant we had to go through all the testing all over again. This time around different genetic testing was done.
The test performed was a "OtoSCOPE v9 Gene Panel (224 genes): Comprehensive Next-Generation Sequencing (NGS) panel and copy number variant analysis
This time around, they found 2 variants in the MYO7A gene. The results are consistent with autosomal recessive non-syndromic hearing loss OR Usher Syndrome type 1B.
Sorry, semi- vent... Anyways, I guess my point would be that you'd have to ensure that the genetic testing covers a wide number of genes? I'm not sure if i'm saying that right... EDIT:: It looks like the genetic testing you undertook was pretty extensive.
During my research of Usher Syndrome, it seems that people still come back with good gene testing results implying that we still don't know all of the genes that may cause Usher Syndrome.
Did they offer / ask to do a test under sedation? We're currently looking for a specialist and was wondering if the sedated route is better
CMM41329 1 points 2y ago
There are dozens of different types of RP. Did they test for all of them?
Murky_Use4398 [OP] 1 points 2y ago
No, all these genetic testing was done to find the cause of her hearing loss. RP and Ushers were included as a whole. All types of usher was ruled out, but RP I don't knot.
CMM41329 1 points 2y ago
Oh I see. You might want to get a second opinion because they definitely shouldn’t be waiting 6 months to see if it’s RP.
[deleted] 1 points 2y ago
[deleted]
FaerilyRowanwind 1 points 2y ago
There are hundreds and hundreds of visual impairments. She may have onh or a ton of other things.
niamhweking 1 points 2y ago
While I can't give you suggestions on possible diagnosis I was searching back in posts a fellow parent made on a local FB group as I know her daughter is VI and HI to see if she mentioned conditions, what I did find though is so many people have both and vast majority are not ushers and most seem on the surface not to be linked. I think only 1 out of our 270 members have a child with ushers. There are such a vast number of visual impairments it's mind boggling. I'm presuming your opthamologist has also done non genetic tests, and done physical eye tests also
Murky_Use4398 [OP] 1 points 2y ago
Yes, they have done the normal eye test and everything looked normal. Have you come across someone who has been diagnosed with this type of issue at such an early age? Because from what I read online the symptoms only start to show during later years.
niamhweking 1 points 2y ago
Yep, they would have been diagnosed before they were in primary school, well the ones I know of. Ushers for sure the vision goes in late teens/adult hood but many have both from birth/toddler age
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