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Nystagmus anyone?

lmtheis1lmtheis1 member
in Special Needs
On Wednesday, our 4 month old DD was dx with Nystagmus.  It is unclear at this point if it is Congenital or Ocular Albinism, so we are going to have genetic testing done.  I am posting to see if there is anyone who has experience with this condition with their LO's?  I am feeling alone and lost, and have cried LOTS of tears since her appointment.  I know it is not the worse thing in the world, and she is still my perfect baby girl, but I am just looking for some support.  TIA
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Re: Nystagmus anyone?

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    stilts1stilts1 member
    I don't have experience with this, but in the research about my son, nystagmus can be a sign of LOTS of different disorders.  Most of the issues I've read about stem from central nervous disorders.  (not to scare you!)  Just talk with your Dr about it and have them do the appropriate workup.
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    st.augbridest.augbride member

    Ds developed nystagmus at around 4.5 months. We went to several specialists over it, and then as suddenly as it came on, it went away. We still don't really know why, but ds had several other neurological issues and movement disorders that seem to have steadily improved over time. At the time, I researched as much as I could and found that there can be many different causes. Can you describe the type of nystagmus more? Ds's was intermittent, horizontal and happened most frequently when he was tired.

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    st.augbridest.augbride member
    Also, don't know where you live but there is a great doctor at the NIH who specializes in this. I would be happy to look up his name for you if you feel that would be helpful.
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    lmtheis1lmtheis1 member
    As of right now, her dx is congenital nystagmus, but we are having genetic testing done to find out if it is ocular albinism. The doctor did not rule out OA because her optic nerve is gray...not sure what that means for the quality of her vision though. Her movement is horizontal, and is pretty constant. I never thought anything of it until her ped quickly noticed it at her 4 mo checkup and referred us to a PO. DH has a call into Dr. Hertle(he is supposed to be the expert on it) to discuss possible surgery and to get a 2nd opinion. Any info is helpful for me, as I am trying to learn as much as I can at this point. Thanks!
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    adadrian910adadrian910 member
    Our son was diagnosed with nystagmus at his 2 month appointment. (He is now 20 months old). We were sent down to Riley Children's hospital in Indy to see a pedi opth. Immediately after looking in his eyes, she said he has ocular albinism. Our hearts sank at that moment, but we are lucky to still have a healthy little guy. Ocular albinism is x-linked, which means females are carriers, males get the signs and symptoms of it. We have been through genetic testing and genetic counseling recently. His vision is that of a normal toddler right now, and won't need glasses until elementary or middle school. His nystagmus has decreased to the point where 99% of people don't notice it. Ocular albinism effects 1 in 50,000 something males. Our chance for having another boy that will be effected by it is 50%, but the females become carriers and can pass it onto their future sons. When genetic testing on our son came back, it came back as a genetic mutation they have never seen before, meaning, it was an error in DNA when he was developing. Now that they aren't sure I am a carrier or if it was a mutation, I now need to have a genetic blood draw to be sure. Since our son's genetic testing came back as pretty much a never seen mutation, they have asked to inject his blood into a mouse for research in Penn. to see if that mouse will get that mutation as well. I hope this helps, I didn't see this post sooner for some reason. Feel free to message me if you want more info, I have loads of info on this stuff.
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