Causes of cataracts and Micropthalmia

[ohbilatmicromom]

Hello
Just wondering if anyone else has done any further research about possble causes of cataracts and micro? I have tried to email the ican admin, but keeps coming back as failed.

I found a website that contained some interesting information about causes in mice. There were dominant, recessive, co-dominant and x-linked. One of the results I found was from HPV-16. Anyone else heard of this before? HPV is something that affects woman and if it is active she could get abnormal PAP smears and precancerous and/or cancerous cells on the cervix and/or uterus. Many, many women have this and they don't even know they have it because it could lie dormant for years or forever. You have no signs or symptons you have it unless you have and abnorma PAP smear. Actually its reccommended all women over the age of 30 be tested for this during their yearly exam, because like I said most women don't even know they have it. Its condsidered an STD, which makes it difficult to accept.

Here is the website I am talking about:

http://jaxmice.jax.org/library/ophthalmology_data.html

Just wondered if anyone else has checked into this possibility. I know I have offered advice to others, but I am having a difficult time accepting the fact that I will not know why my son was born with cataracts and bilateral microphthalmia. Especially being the kind of person I am, wondering if this is something I will again pass onto other possible future children or if it was a fluke. I guess I just have a very difficult time not knowing. I am the type of person who NEEDS answers!

Any advice??? :'(
Michelle

[ohbilatmicromom]

Thank you both for your helpful info. I actually was given the gene SOX2 to research from my microbiology teacher last semester and that is how I stumbled upon all of this new info. I actually stumbled upon the genedx website but was hesitant to contact them due to the costs of the testing.

Has anyone ever been extensively tested for these genes mentioned? PAX6, SOX2, SIX6?? If the micro is not syndromic will it even show up? I think it is worth my contacting someone at Genedx to see what they say!!!!

Again, thank you so much for your info?
Michelle ;D

[ohbilatmicromom]

Inga, thank you so very much for sharing your very personal and tragic experience with me! NO WAY WOULD I EVER JUDGE you for the decision you and your husband made!! You know what your daughter is going through everyday and for you not to want to have another child experience it, that is 100% your decision. I am DEFINITELY a VERY open-minded individual when it comes to these matters. We are very lucky that our son has bilat micro and does have useful vision out of at least one eye if not both. As you know the concern is do my husband and I carry some defective gene and will we give this to our next child? I have been told over and over by many physicians they know the gene for micro and anophth, but don't know how to test for it if it unknown why it occurred. I guess if it occurs with a syndrome they can assume it was because of that syndrome, but if its not in the family backgroud or syndrome related, no actual test is available. That was why I was skeptical of this company. They sound excellent, so it will be interesting to see what they tell you. Please keep me updated I will be very curious to see what they find out.
Again, I want you to know I definitely know the decision you made to terminate your pregnancy was most likely the most difficult decision you will have had to make and you will live with that decision for the rest of your life, even though you know for you personally it was the best decision!!

Good luck. If you want to email me and not post:

mballard@buckeye-express.com

Again, keep me posted!!
Michelle

[ohbilatmicromom]

Pat, I never properly thanked you for all of your research and help into my question of HPV and transmission of cataracts and and bilat micro. Seems to me with your background you have alot of knowlegde. I have one measly microbiology class under my belt, so all of this stuff is foreign except for recognizing the names.

You stated the mice were transgenic meaning they had a defective gene in them to begin with? I looked that up too and I am trying to understand it. They inject these mice so they are susceptible to whatever it is they are trying to study? Not really sure. I agree though, more research needs to be done on all of this. Our government is definitely spending their time and money on useless causes for political gain and not giving funding to have proper research in all areas of study!!

Even the my son's local geneticist blew me off when I raised this question, as well as my OB-GYN and son's pediatrician, and opthalmologist. No-1 seems to care or think there is a link. But that study I found sure makes it sound like there could be???

I did send my question to Tonya at ICAN and she did respond by saying no way was this the cause. So, who knows. I know the medicine is a science and I just need to accept at this moment in time I will not know, but, if there is something out there I would like to know!

I know I am rambling on and on, but, as a mom you know and understand my need to know "why"

You may have said before but do you have any other children? Does your daughter also have a syndrome? just wondered.

thanks
MIchelle

[imported_admin]

This is Tanya Bardakjian, Genetic Counselor and coordinator of the Anophthalmia/MIcrophthalmia research project. I was reading your posting and wanted to remind you that gene screening is available through the research protocol free of charge. The three genes that Genedx looks at SOX2,SIX6 and PAX6 are available through our research and the DNA is stored to use for future testing if needed. We also collect clinical information to make specific diagnoses and of course are always availabel to answer questions.

Please call or e-mail me with questions 215-456-8722 or bardakjiant@einstein.edu

Tanya

[imported_admin]

This is Tanya again,
I just wanted to correct something posted previously, by Pat, SOX2 is a gene in which mutations ahve been found to cause anoph/microphthalmi. It is a dominant condition, meaning one mutated "changed"opy of the gene leads to A/M.

Also, Michelle, I am looking into your HPV question and actually left you a phone message earlier.

Hope this helps. And if you do want a genetics update in the Conformer- would be happy to do it- let me know if this is something you want

[ohbilatmicromom]

Tanya,
Thank you so very much for your help. I look forward to the upcoming research!!
Michelle