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Re: Cataracts- Martha

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Hi ,

You are fantastic, you know that? I couldn't get anything about probabilities

from what I'd

read.

I neglected to say that I have never been prescribed prednisone or other

steroids for UC,

and that we have no family history of DM (myotonic dystrophy-sources seem to use

the

Latin abbrev). However, my concerns were tainted by the experience of a friend's

family.

The grandmother had no symptom but early cataracts, but my friend's mother

developed

DM in her 30s or 40s. My friend was adopted, but her brothers were at risk, and

the family

debated whether they should be tested, in part due to concerns for their mental

health. Of

course lots of people get cataracts and don't carry DM or even expansions of the

repeats,

but how rare repeat expansions are is what I was worrying about. When repeats in

one of

the genes expand beyond 37, they become genetically unstable and can rapidly

expand in

subsequent generations as the DNA " slips " when the precursors to the germ cells

(sperm

or egg) divide.

As far as 's and copper is concerned, I will definitely talk to my primary

and GI about

testing copper levels. I didn't mention it to my GI earlier this week- but it

sounds like the

copper question is for him. As you say, it certainly isn't a common complication

of PSC.

The strongest UV I've been exposed to is light from UV sources in lab, but I've

always worn

safety glasses. I'm not a frequent flier and don't spend a lot of time on snow

or water (I

wish!). No history of diabetes either (one test with high blood sugar, but it

was a fluke).

Thanks again!

Martha (MA)

>

>

> Hi Martha;

>

> I had to do some reading on myotonic muscular dystrophy as I knew

> nothing about this before your post. From what I can tell, using this

> exhaustive resource:

>

> http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160900

> http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160900>

>

> it would be difficult to ascribe cataracts to myotonic muscular

> dystrophy unless you had one or more of the other symptoms: myotonia,

> muscular dystrophy, frontal balding, ECG changes, or low IgG. Did your

> father or mother have myotonic muscular dystrophy? If not then it would

> be very unlikely that you would have this susceptibility gene. It's not

> clear from your post whether your father just had cataracts, or whether

> he was also diagnosed with myotonic muscular dystrophy?

>

> I think it's a good idea to try to find out what type of cataracts you

> have. Perhaps if you have a history of taking corticosteroids for your

> UC, this may have contributed to an increased risk of cataracts?

> Certainly there does seem to be an increased risk with family history of

> cataracts and a number of other factors, such as diabetes, exposure to

> sunlight, and prior steroid therapy:

>

> http://www.mayoclinic.com/health/cataracts/DS00050

> http://www.mayoclinic.com/health/cataracts/DS00050>

>

> http://www.allaboutvision.com/conditions/cataracts.htm

> http://www.allaboutvision.com/conditions/cataracts.htm>

>

> I've read that the type of cataract in 's disease is often of the

> " sunflower " type:

>

> http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=1737031&blobtype=p\

> df

> http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=1737031&blobtype=\

> pdf>

>

> Yes, copper accumulation has been noted to be associated with PSC:

>

> http://www.ncbi.nlm.nih.gov/pubmed/4007418

> http://www.ncbi.nlm.nih.gov/pubmed/4007418>

>

> but I havn't come across anything indicating that this results in

> cataracts in PSC patients, and if so (?) whether the cataracts resemble

> those seen in 's disease (?)

>

> Sorry this may be of little help ... but please try not to worry! Please

> give us an update if you learn more about the type of cataract and what

> your primary doctor thinks may be the cause.

>

> Best regards,

>

> Dave

>

> (father of (23); PSC 07/03; UC 08/03)

>

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