KC Genetics

[garnet]

Hi all,

I was just wondering if any one knows what the chances are of passing KC on to your kids, and whether they would be likely to have progressive/non-progressive KC depending on whether or not you do?

I was never really concerned about this before (I'm still only 26 and don't plan on having children any time soon!) but since I had a very painful hydrops in January, for which I've only just stopped taking painkillers, I've been thinking that it's not really something I'd want my kids to go through.

Thanks,
Garnet

[Andrew MacLean]

Garnet

There is still a degree of controversy over the question of a genetic link to keratoconus. It is clear that if there is a genetic link there are also environmental co-factors that trigger the development of the condition.

At the moment there are several research programmes under way to advance our understanding of the genetics and proximate causes of keratoconus.

My son has keratoconus. My daughter does not. I am the first person in my family's history ever to have KC diagnosed, and apart from my son the only other person after me is the grandson of my cousin.

All the best

Andrew

[Lizb]

I am the first person in my family to be diagnosed with KC, though all my family had one or more of the Excema, asthama and hayfever/allegies. Both my sisters have poor vision, and one has just been diagnosed with an astigmatism both attend the opticians (independant not chain) that first diagnosed my KC.

[GarethB]

I've seen several presentations as part of the AGM and local groups that show strong evidence for KC being genetic. Where I have had oppertunity to talk directly with the speaker opinion is divided as to if you have the KC genes that you will get KC.

Some have said if you have the genes for KC (appeasr to be at least 5 recessive (faulty) genes to be present together) you will go on to develop KC. The others have said it gives you a predisposition to getting KC based on environmental factors (yet to be determined conclusively but suggest eye rubbing, hormonal changes and trauma) which is why when identical twins are studied the KC progression is more often slightly different.

[dazzabee]

I am glad this topic was brought up. I have been thinking about compiling an online questionairre/database asking as many random and not-so-random question I can think of to see the links people have, differences, comparison etc.

What do people think of the idea? I have some web skills myself, although I would be happy using this site as the host if that would be preferred. Webmaster (John?), your thoughts?

Initally, however, what are your thoughts on the idea? Has it been done before?

[Andrew MacLean]

Good idea. One problem that we would have is that we are not fully aware of the wider families of which we are part. I discovered only recently through this site that I had another relative who had KC. I knew about me , I found out about my son then I learned that somebody else on the forum was actually related to me!

He is the grandson of my cousin. Neither of us knew the other; he lives far from me and did not make the connection when he saw my name (I don't know any of my grandparents' cousins, either). Yet he and I are related (however distantly).

Does this mean that I am sold on the idea of a genetic link? Not really; of course it is possible for there to be people like my cousin's grandson, my son and myself all to have keratoconus just because we live in the general population.

I shall be really interested to see the outcome of current research. Anecdote is not a sound basis for conclusions; your survey would add to the information that there is around on KC, add to the epidemiology of the condition.

All the best

Andrew

[Graeme Stevenson]

Interesting one indeed.

Of course the jury is still out on the subject.

I heard today that "Fight For Sight" have just announced their latest research awards.I have listed below a quote fom the letter I received from them today.

" Among the awards made is one to Colin Willoughby and Professor Anne Hughes at the Centre for Vision and Vascular Science,Queens University Belfast for research into Keratoconus.The key objective of this new research is to identify the genetic determinants associated with Keratoconus.By identifying the genetic basis of the condition in young adults,it is hoped to be able to develop new therapies for the future."

I will contact FFS and get back to the forum on how we may be able to help if at all.

BR
Graeme

[dazzabee]

Interesting. Before I proceed with anything it would be interesting to hear what they have to say.

Thanks

Jay

[Andrew MacLean]

My big worry about the search for a genetic link is that, at times and in other conditions, this has been an excuse for inactivity on environmental causes.

Anyway, the money is out there, and we will no doubt be told in the fullness of time that they have found the genes that combine to cause keratoconus. In the meantime they will have abandoned years of opportunity to be looking for environmental co-factors that they can control.

Such is life!

Andrew

[Lynn White]

Andrew

I think I could argue with you here a bit! There are now clear genetic factors in keratoconus as it has been connected with quite a few gene locations now. On the other hand, there are acres of research into environmental factors. I think I am safe I saying this is one condition where both areas are being looked at very closely indeed. One reason being is that, say, a propensity for a collagen disorder can be aggravated by eye rubbing. Tendency towards having allergies is also certainly heavily linked with the environment.

I am writing this on the run but will dig out relevant research for people to look at.

Lynn