Thank you for pulling all of this together and sharing in accessible language.
There is another group - perhaps vanishingly small - of people like me with RP and hearing loss who have no as yet identified mutations known to cause Usher Syndrome. I have my DNA retested regularly as more variants are identified but still no matches.
I was diagnosed with RP at age 35 and still have good central vision. Hearing loss started soon after - so relatively late onset for both. One older brother had hearing loss since his teens and was diagnosed with RP when he was 40. No other affected family members or ancestors that we know of.
The most recent analysis of my whole genome sequencing identified a mutation in RIMS1 which they are calling a “gene of uncertain significance” that may be associated with Usher type symptoms. Or, it could be that my hearing loss and RP are unrelated….
The upshot for me is that the wonderful developments in gene-specific treatments are probably not relevant to my case, but the gene-agnostic ones may hold some promise.
Hi Mark I read all your posts on blue book. Thank you for all the time and energy you put into researching and writing these articles. I really appreciate you!
Thanks Mark. Your essays are fascinating and a great insight into Usher syndrome. My son has Usher 2A so these are great to chat to him about so he understands what is coming down the line and just how to look after himself.
He is seen at Moorefields in London, but I have learnt more about the syndrome from your essays.
Mark,let me say for all the quiet ones nurished by all your courageous work, we hear/see:appreciate all your work! Keep on going!! TD
Thank you for pulling all of this together and sharing in accessible language.
There is another group - perhaps vanishingly small - of people like me with RP and hearing loss who have no as yet identified mutations known to cause Usher Syndrome. I have my DNA retested regularly as more variants are identified but still no matches.
I was diagnosed with RP at age 35 and still have good central vision. Hearing loss started soon after - so relatively late onset for both. One older brother had hearing loss since his teens and was diagnosed with RP when he was 40. No other affected family members or ancestors that we know of.
The most recent analysis of my whole genome sequencing identified a mutation in RIMS1 which they are calling a “gene of uncertain significance” that may be associated with Usher type symptoms. Or, it could be that my hearing loss and RP are unrelated….
The upshot for me is that the wonderful developments in gene-specific treatments are probably not relevant to my case, but the gene-agnostic ones may hold some promise.
Hi Mark I read all your posts on blue book. Thank you for all the time and energy you put into researching and writing these articles. I really appreciate you!
Thanks Mark. Your essays are fascinating and a great insight into Usher syndrome. My son has Usher 2A so these are great to chat to him about so he understands what is coming down the line and just how to look after himself.
He is seen at Moorefields in London, but I have learnt more about the syndrome from your essays.
Thanks you from the bottom of my heart.