UK Keratoconus Self-Help and Support Association

Hey there! Just wanted to ask you all for your thoughts really. Im sure most know of the genetic studies with KC and i have something to read on it but cant see enough to yet! LOL!

Its just have been doing some thinking and am wondering if maybe i should volunteer? As some here know i have an identical twin sister who obviously has this condition as well although hers is not as bad, and just wondered what it entailed?

I did want to do this a while back but my sister wasnt very keen and obviously i cant do this alone!! LOL!! I think it was a kinda denial thing but since she had some lens problems a few weeks ago has decided to take this seriously and stop having a go at me for saying when things go wrong!

Sadly how much i know of where she is going, and maybe that is what it is. Im older than she is, (by a whole 9 minutes and 3 seconds!!) very important! And maybe she thinks i am trying to prove something i dont know. But sometimes i think that denial is bliss and i would love to go back and stay there, though this 'honeymoon' phase did not last long!!

Anyway ... just wondered what you thought and if anyone else has a relative with KC as well? Will let you know what we decide.

Thanks, love Sweet X x X

Hi Claire

I don't have an identical twin sister and I am the only one in the family know to have KC.

I think if your both willing to give up your time then its a highly commendable action. If your genentically identical you and both have KC but at different stages of development it strengthens the argument in support of environmental factors etc....thus making the two of you extremely interesting KC suffers to study. Your a Nurse you know all this.

I think the positives outway the negatives on this and you may benefit youselves as well as others long term by participating.

Choice is ulitmately yours.

Drew
x

Hi,
i would suggest that it's a great suggestion... most definately interested to see if KC is genetically passed...
Done some digging of my own.. and no-one in my family seems to have KC... they all seem to wear glasses though!

where is this research taking place sweet?
further info on it?

Hey there!

Well i know that Moorfields was doing one as i was asked a while back but as i said my sister didnt want to do it then. I dont know what stage they are at but i have their number so may give them a call.

Either way now she has changed her mind i guess someone would know of one, i mean we arent going anywhere are we?? We will still have this condition so whenever! LOL!! So long as she doesnt change her mind again!! LOL!!

I just think it would be really helpful to everyone including us, but didnt want to influence her decidion, as thats not very good nursing being a patients advocate is it!?! LOL!!

Sweet X x X

Ok well i called them up and they are getting back to me probably tomorrow so will let you know! Just hoping my sister doesnt change her mind by then!!

She hates all hospital things and blood as it is!!! LMAO!!! Well i guess only one twin can be a nurse right? That is more than enough!!

LOL Love Sweet X x X

Hi Sweet
Of the hundreds of keratoconics I've seen over the years I can only think of a handful with family history of KC.However there is anectodal evidence that genetics could be one of the many factors involved. As I am sure you realise this sort of research is very difficult. For example it's well known that KC is very common in warm tropical climates.Now, is this a racial ie genetic link or an environmental ie climate link ? I've seen patients whose cones advanced after spending a few months in a warm climate which makes me think that warm and humid environments could be a factor but need a proper study to show a proven link. I think it'd be great if you are able to do your bit in finding out more about it

Ali

Actually, genetic work has now identified loci for keratoconus - theres an article in J. Med Genetics 2005;42;88-94 (abstract can be found on http://www.eioi.org/research_kc.html) which has identified one on 2p24. There is increasingly more and more evidence that it is genetic - just not obviously so because of outbreeding.

As I keep saying, and I know I am getting a bore about it lol - you look to the Caribbean at islands where the population has been isolated for about 400 years and you will find it dramatically more concentrated. Not just Trinidad where I was, but also places like Puerto Rico. There are also isolated pockets in various countries around the world. It was also intresting in Trinidad that there was a great deal of colour blindnees in women...which also indicates a highly inter- related population and incidentally also a complete lack of macular degeneration which should make european researchers sit up and wonder!.

I had to laugh when a report came out this month showing that Mac degen was linked to smoking. They all smoke like chimneys in Trinidad yet I never saw a single case!

Yes, the warm tropical weather may well have an effect in the respect it tends to encourage eye rubbing but I strongly feel that genetics has a part to play. It is possibly true that the West indian population in the UK do not show this tendancy quite as much because they have a bigger gene pool to choose mates from. Trinidad also has a complicated genetic/ethnic background which would be interesting to explore.

Genetic studies in the UK are obviously important - but I remember getting a bit weak at the knees when I researched a study in America which had found 60 cases over a period of 70 years - Pennsylvania I think it was... I could find you that many on a wet Saturday afternoon in Trini.

So... to actually answer Claire's question... go for it girl! You are identical twins and both have it to diferent degrees... that has got to be SO significant!

But just to plug my favorite subject... if any of you Moorfields researchers here are watching... there is
a population out there in the Carribbean begging to be researched genetically. If anyone has any clue as to how this could be done, I would like to know as I am still in touch with people out there and there are possibilities that a joint study could be done with UWI. It just needs the right people to come together!

OK off my soapbox now...

Lynn

if thats the case that warm and humid enviroments can increase KC then im off to live in iceland.....and thats not the supermarket..lol

Ah now then Matthew

are you volunteering for a study?? Which freeezer do want to be locked in?? Burgers or the ice cream one??

Lynn

Lynn, my personal instinct was that genetics had a major role to play but didnt express this before as I wasnt aware of the latest research -thanks for that. I am not sure if progression of KC in a tropical climate is purely due to eye rubbing or there's a more direct effect of humidity.I do remember a patient who went to Mecca for pilgrimage and returned with hydrops which was probably due to eye rubbing in the hot, dry, dusty desert conditions and perhaps patients have to be supplied with arm restraints to stop them rubbing their eyes LOL .