Meesmann Corneal Dystrophy

[Pinklady]

Hoping someone can help me. My daughter has just been diagnosed with Meesmann dystrophy (previously thought to be EBMD). Does anyone have this condition or any knowledge of it? From what I have read it is caused by a faulty gene and she will have inherited from myself or my husband. I am wondering if this can be confirmed by genetic testing ? We were considering further surgery for her but this may be pointless if the cornea will always grow faulty.
Any information anyone has would be gratefully received !!

[littlemermaid]

Hello Pinklady, Hope you get some help on this. Is this for sure? My first thought is who thinks it might be Meesmann's now and are they sure. Does she definitely have the cysts on the eye surface?

http://journals.lww.com/optvissci/Fu...trophy.12.aspx This looks useful if you haven't seen it, especially on difficulty of diagnosis.

http://omim.org/entry/122100 Online Mendelian inheritance in man, online catalogue of human genes.

There should be referral for genetic counselling. They shouldn't leave you dangling. We had genetic testing at Oxford, for example.

You might want Rare Disease UK for info and support http://www.raredisease.org.uk/.

Also Swan UK http://www.geneticalliance.org.uk/projects/swan.htm Syndromes without a Name (Swan) support for families with undiagnosed genetic conditions

Contact a Family http://www.cafamily.org.uk/ may know another family dealing with this

I would ask the national centres if they can put you in touch with other UK families with Meesmann's.

This might be useful on the genetics http://ghr.nlm.nih.gov/gene/KRT12 US National Library of Medicine, Genetics Home Reference

[Pinklady]

Thank you as ever for these links. Will have a look at them and see what I can find out. Will pm you later when I have more time - we must be due a catch up!! X



UOTE=littlemermaid;83186]Hello Pinklady, Hope you get some help on this. Is this for sure? My first thought is who thinks it might be Meesmann's now and are they sure. Does she definitely have the cysts on the eye surface?

There should be referral for genetic counselling. They shouldn't leave you dangling. We had genetic testing at Oxford, for example.

You might want Rare Disease UK for info and support http://www.raredisease.org.uk/.

Also Swan UK http://www.geneticalliance.org.uk/projects/swan.htm Syndromes without a Name (Swan) support for families with undiagnosed genetic conditions

Contact a Family http://www.cafamily.org.uk/ may know another family dealing with this

I would ask the national centres if they can put you in touch with other UK families with Meesmann's.

This might be useful on the genetics http://ghr.nlm.nih.gov/gene/KRT12 US National Library of Medicine, Genetics Home Reference[/QUOTE]

[littlemermaid]

Meesmann corneal dystrophy or any genetic cornea dystrophy in a child or family ~ anyone? Pinklady is doing OK but we have someone else who needs contact with other families with young children

[liz56]

I have been diagnosed with EBMD, but I am not sure if your original post means that they are different or if what we used to call EBMD is now called Meesmann dystrophy.

At any rate, I have microcysts that have in the past presented as RCEs, and I manage the condition with Muro 128 5% eye drops and protective eyewear at night-- TranquilEyes. I have been clear of serious symptoms since 2008.

[littlemermaid]

Thank you, Liz, did you have genetic testing? http://fightforsight.org.uk/project-display/items/253

At any rate, I have microcysts that have in the past presented as RCEs, and I manage the condition with Muro 128 5% eye drops and protective eyewear at night-- TranquilEyes. I have been clear of serious symptoms since 2008.

Thank you, good to hear.

[liz56]

Thanks, littlemermaid!

I hope you're doing okay yourself!

--Liz

Thank you, Liz, did you have genetic testing? http://fightforsight.org.uk/project-display/items/253

Thank you, good to hear.