KC genetics hereditary link discussion (now inc a KC mouse!)

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tommy.dean
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Postby tommy.dean » Mon 18 Jun 2007 9:44 pm

hey cherishu2, I wouldn't be surprised if it come out that keratoconus is a hereditary endocrine disease, just the fact's haven't been proven but it's staring us all in the face young teenagers, pregnant women maybe if us human males were castrated before puberty kerotoconus would not be so prevalent, but i know i wouldn't want to volunteer for that surgical procedure lol :lol:
Still loving this KC mouse!!!
tom

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Andrew MacLean
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Postby Andrew MacLean » Tue 19 Jun 2007 6:14 am

No pictures here, just science, but the paper is interesting and does open possible non-surgical therapies:

http://www.pnas.org/cgi/reprint/102/46/16795.pdf

Andrew
Andrew MacLean

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cherishu2
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Postby cherishu2 » Tue 19 Jun 2007 10:00 am

maybe if us human males were castrated before puberty

oooo can i volunteeer to do the surgery theres a few id like to volunteer for :lol: :lol:
i have a lovely blunt kitchen knife :lol: :lol:
mum to 7. Its a long story lol. cornea graft oct 19 2007.
Son with KC too
registerd blind 17th May 2007

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tommy.dean
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Postby tommy.dean » Tue 19 Jun 2007 5:51 pm

Andrew just read that study it's made me understand more about keratoconus, after my first penetrating keratoplasty i took part in a study on nerve regrowth in transplanted cornea's they were testing corneal sensitivity at different stages after the nerves had been severed. I was told that i was the only person taking part whose nerves regrew so fast, so maybe thats why contact lenses were such a problem for me maybe there are two set's of keratoconics a set where the nerves are present in normal amounts or more (I'm guessing this means the absence of nerve growth receptor TrkA isn't always true) but for some reason a breakdown/ over presence in isoforms still occurs, and another set as found in that study where the absence of this nerve growth receptor directly effects the isoforms. It's funny you've posted this study now, as only last night i was emailing manchester university trying to find out if taym finished his study and what results he got, i'm presuming though i would have been his anomalies in his study. When i manage to get the data and results there sure to be posted on here, so we can look at them and come to whakey conclusions :lol:
Cherishu2 let's hope there's no young males with KC in your area :lol:, not many people would agree with me saying its an endocrine disease though it's a very very controversial subject.
tom
Last edited by tommy.dean on Wed 20 Jun 2007 10:17 pm, edited 1 time in total.

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Lisa Nixon
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Postby Lisa Nixon » Tue 19 Jun 2007 9:51 pm

KC is definately hereditary in my case. My natural mother had it, (I'm adopted but her records state that she had very poor vision and wore strong glasses). I have it. My son, now 26 has it. My grandson is 6 months old tomorrow and I'm praying that he doesn't get it.
Only Robinson Crusoe got everything done by Friday!!

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GarethB
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Postby GarethB » Wed 20 Jun 2007 7:09 am

From the Study Mr Tuft did at Moorfileds, the initial results showed that KC rarely went beyond a third generation.
Gareth

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Lisa Nixon
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Postby Lisa Nixon » Wed 20 Jun 2007 5:37 pm

Thanks Gareth, I really hope it doesn't in our case
Only Robinson Crusoe got everything done by Friday!!

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tommy.dean
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Postby tommy.dean » Wed 20 Jun 2007 10:11 pm

Please could you send me the study mr tuft did gareth, i wouldn't like to make any comment before reading what you have read, as i do not wish to be derogative with my presence on this board.
many thanks tom

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John Smith
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Postby John Smith » Wed 20 Jun 2007 11:01 pm

Tommy,

I don't think that Mr. Tuft has published his research yet; we were privy to an interim presentation at our AGM.
John

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tommy.dean
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Postby tommy.dean » Wed 20 Jun 2007 11:05 pm

Hey john, I thought i was the only 1 that hung round on the forums at this time lol, I've never read anybody stating that after 3 generations it subside's before, it's a very bold statement considering how varied KC is thats all i can say for now, how many patients were part of the study and at what stages where there keratoncons do you know?
tom (the nocturnal keratoconic lol :lol:)


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