KC Genetics

[Andrew MacLean]

Way to go Lynn

I was trying to provoke a bit of an argument Nothing I enjoy more than a bit of gentle scholarly debate!

You make my point slightly when you acknowledge that cash that follows the fashion for genetics flows from other areas of research. Even if some cash is going to environmental co-factors, this area has fast become the cinderella area of keratoconus enquiry.

I'll be interested to see your research; include comparative sums committed for the coming five years to genetics on one hand and conventional medicine and social science (such as epidemiology and Public Health) research on the other .

Andrew

[rosemary johnson]

I seem to remember a researcher speaking at a previous KC group meeting or conference talking about research into possible trigger factors.
One possibility they were looking into was mineral deficiencies - Zinc, I think it was she mentioned especially.
By pure coincidence I'm sure (!) she was speaking at a morning session and one of the foods rich in this possibly-midding mineral was on the menu for lunch!
Other possible triggers were mentioned, including an autoimmune response (though I think there might also be a genetic link to being prone to autoimmune conditions). I expert eye-rubbing came up, as it soo often does, though opinions do seem to differ. Or did.
I suspect one problem with trigger factor work is that one can have too many possible trigger factors to avoid or healthly-living things to do.
Like with food advice.
First they tell you to eat lots of tuna because it is rich in the "right" sort of oily fish oils.
Then they tell you not to eat too much tuna after all.
They ou get all those entreaties only to eat the right sort of tuna for the sake of the dolphins.
Then the stress in healthy eating changes from tuna and one sort of omegas to oily fish in general and other numbers of omegas too.
Meanwhile we are all being urged to eat lots of fruit and veg, and some people get so keen on lots of fruit and veg and healthy vitamin C that they start taking vitamin C supplements - and get so keen they are taking so many vitamen C supplements that they are overdosing onthe things and the supplements are making them ill.
And they will doubtless tell you about ho healthy it is to consume loads of antioxidants and how everyone should get plenty of antioxidents - though how come anyone thinks that ascorbic acid could possibly be an antioxidant beats me, and apparently if you really look into the science behind this, it doesn't hold water; all this antioxident stuff is nothing but supplement sellers' hype and in fact will either do nothing or someimes be harmful.....
Me, I'll just go back to my umpteenth cup of tea, my nice thick greasy bacon butty (with English mustard), and a large block of Fruit'n'Nut chocolate. If I keep tucking into that, I'll get to five portions of sultanas a day. And if anyone has any spare Brussels sprouts, Duke just loves the things.
As with migraine, it may be a combination of trigger factors - but the timescales make it harder to link the "any three of this list".
I mean ..... because the result is all too obvious with a couple of hours, or even a few minutes, it's possible to work out that one might get a migraine with any combination of 3 or more of: heat, bright lights, flashing lights, dehydration, tiredness, being hungry, caffeine withdrawal symptoms, or putting milk into coffee. But KC can develop slowly over years.......
I do in some ways share qualms over an emphasis on genetics - yes, it is no doubt interesting; yes it may in future lead to gene therapy that might prevent KC developing. Meanwhile, it might also lead to victimisation of people who have been found in (employer or insurer, etc, imposed) genetic screening tests to be susceoptible to KC.
Or to pregnant women being told that their baby has a genetic likelihood of developing this weird eye disease they've never heard of before, and being asked if they want to abort it.
Fanciful? - we can only hope so. Yet how many mothers of much-loved children with Down's Syndrome have had to fight against just such thing?
Rosemary

[GarethB]

Rosemary,

Your philosophy sounds very much like:

If too much of a good thing is bad for you.
Then too much of a bad thing must be good for you!

Is the fruit n nut as desert or melted onto the bacon butty

[Lynn White]

You know, Andrew, you are very bad for my spare time!

I took up your challenge and decided that really, trying to describe the papers I found on here was going to be very difficult, so I have started a KC links page on the CXLClub website so that people can go visit them. I started on genetics then went to environmental and the second is only shorter because I have to go and do other things today. (Some people I know may be shocked I do other things than work.... but it has been known to happen!)

Let me pull together a few strands here: Rosemary is rightly worried about the 2 edged sword of labelling KC as a genetic condition. However, ignoring that aspect of it is not going to help find ways to either slow down progression or even cure KC. And yes Andrew, big money is being thrown at genetics at the moment, check out this page here http://keratoconus.com/7.html where the researchers have got a 3.5 million dollar grant for investigating KC genetic links but the evidence so far shows that it is not as simple as finding a keratoconus "gene". The results so far are finding gene locations all over the place and the environmental causes are still holding good - so it looks like KC can be an unlucky combination of many factors.

Environmental causes include excessive raw UV - as in sunshine - oxidative stress and mechanical rubbing and trauma. Very ironically, one cause of mechanical trauma that tends to be skated over a little sometimes is the effect of RGP lenses on the cornea. Well fitted lenses are one thing but flat fitting ones can cause corneal scarring which then can lead to grafting. So if you are reading this, wear RGPs and have not had a check up for several years GO AND GET A CHECK UP!!

I am saying this because I have seen several really bad cases these last few weeks alone - people who got RGPS and then slid out of having check ups because they were fairly comfortable and they could see OK. However, if the cone progresses, a good fitting lens can become a flat fitting lens and the first sign you may have of this is that your vision is going down because of scarring - which is then too late. If you have regular check ups, then any change in fit can be detected and rectified in a timely fashion.

Other related causes are allergies (atopy) although research has shown that the higher incidence of KC in Asian populations is not as closely related to atopy and in the Caucasion population.

A hobby of mine is to locate KC global hotspots - a map of which is on the above kclinks page - and to try and track the connections. The highest concentrations of KC appear to be in the Middle East and Northern India and Pakistan. As a bow to your cynicism, Andrew, it is a source of interest that the highest monetary research investment into KC is in areas of the world where KC is rarest, i.e. Western Caucasion countries. To me it makes sense to go to places where you can get 60 volunteers for a project in a week - but really common sense does not apply in such matters!

Looking at the map though, it does seem to follow ancient trade routes. The prevalance in the Caribbean, South Africa and Malaysia is parallel to the movements of Syrian traders hundreds of years ago - and the odd concentration in Scandinavian countries may be due to the fact Norsemen were popular as troops for the Byzantine Empire.... but I could go on for ever here

Now, to those of you who have some spare time and like surfing around, I am more than happy to put up any links you find. The CXL Club pages are there to put up information on KC as well as CXL as a permanent resource. As I have said before, I put up this web site for YOUR benefit, not mine!

Any links you want putting up, email to me on lynn.white@lwvc.co.uk

Lynn

[Andrew MacLean]

I think that there is so much attention on genetic factors because there is a great deal of genetic material currently available.

That said, I know of several people who want to pursue more conventional avenues of research: looking for a viral cause (one proposal was to look at a virus related to HTLV I (HHV); funding denied. Another was to look at deficiencies in zinc and magnesium, with a view to developing a non-dietary way of delivering zinc and magnesium in a way that was easily metabolizable; funding denied.

I am not opposed to genetic research, but I do think it would be good to have some balance.

Andrew

[Lynn White]

Hi Andrew

Why was the funding denied in such cases? Have you any links so I can go and have a look?

Lynn

[Andrew MacLean]

Lynn

Spare time - sooty pot - carbonized kettle ?

The virus line was proposed by a friend from Glasgow now working in Texas. He has Keratoconus, funding denied due to budget being fully committed. He intends to re-submit next year, but in the meantime has other work to be doing.

Trace elements research, again United States, but this time in Arkansas. Not sure why funding was denied, but will dig out info during the week.

All the best

Andrew

[Lynn White]

Hehe Andrew..... Do you think there is an organisation called Laptop Anonymous!

Thanks... I really am interested in these other approaches as it seems to me all we do with KC is give contact lenses.

Lynn

[Andrew MacLean]

The reason being that for now, the best and safest way to manage keratoconus is with contact lenses! They are, however, not without their own problems as you know only too well.

Still there is heroic work being done to continue to refine the options available for the contact lens specialist. Your own trial is already well known in the UK, and the new trial being undertaken by number 7 (is that a well known high street pharmacist?) also offers hope.

Andrew

[rosemary johnson]

Andrew said funding had been denied for a study into trace elements:
Was this before or after the work on the subject by the (team of the) person who spoke at a previous conference? - I thin she was from Bristol??
Maybe Anne still ahs copies of the report on that, if you haven't seen it yet, Andrew?
Rosemary
PS: I can't say that the "2-edged sword" aspect is something that normally keeps me awake with worry at night!! - particularly not at the moment, as I have a huge swollen area on my arm from an insect bite which is no doubt sending cortisol levels rcoketing and setting the Cushing's going again! But in the disability movement as a whole it is a well-known and recurring issue that genetic research may not only render those with genetic markers vulnerable to victimisation but may make not only the condition but the peopel who might develop it "preventable".
PPS: was really interested by Lynn's maps of KC being more prevalent along old trade routes. That would certainly seem to me to fit with the idea that it is a combination of several genes necessary - since it is where there is population mbility that different groups of genes get more chance to meet up. As it were.