alternative cause for optic nerve damage

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alternative cause for optic nerve damage

Postby evanrileymom » Fri Mar 23, 2012 10:37 pm

Hello Friends,

Its been a while since I've checked in. Evan is now 3, will be 4 in June. He's small for his age att 28lbs and 38 inches tall. He is super smart and an absolute delight.
Evan has complained of vision problems for a little while, some of which we thought might be a toddler thing. However, given Evan's intelligence level, I knew he was smart enough to know if something was wrong so I started to take him seriously. His teacher mentioned to us in Jan. that he was tripping and falling a lot. He had a few head injuries at school because of it. Recently, she let us know that Evan is having trouble seeing at school. We also noticed the worsening of Evan's vision just over the past few weeks. Sitting up on the TV and asking to bring things closer, etc. Long story short, yesterday he was diagnosed as being almost legally blind in both eyes -- from having pale/atrophied optic nerves/discs. He had a MRI today but no results yet.

Question is, can there be other causes for the vision change and optic nerve damage? It seems like there can be however, does this occur in kids with NF? Are there any known instances where this is NF related, however no glioma was found?

Thanks in advance,
Krystena
Evan's mama
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Re: alternative cause for optic nerve damage

Postby silly4cats » Sat Mar 24, 2012 12:46 pm

i had vision loss in one eye. optic nerve damage no glioma. it was hydrocephalus. i got a shunt to drain the fluid. it turned out ok. vision loss still there, but rest taken care of. julie
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Re: alternative cause for optic nerve damage

Postby CindyLouWho » Mon Mar 26, 2012 8:49 am

Pale optic nerve is a frequent pre-finding to optic glioma discovery. That coupled with the vision loss and an NF diagnosis certainly sounds highly suspicious for a glioma. He is also at an age where this particular NF complication sometimes becomes known.

Are you being seen at one of the better known NF clinics...its unfortunate that they waited so long to get him in for the eye test and MRI. Maybe you should consider seeing someone else?

Other common findings in NF include astigmatism, and amblyobia/strabismus but none of those would account for your findings, particularly the pale optic nerve.

Keep us posted.

Cindy
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Re: alternative cause for optic nerve damage

Postby Orangecera » Mon Mar 26, 2012 1:21 pm

Cindy, I love how well-read you are! :) I had never heard that astigmatism was more common in NF. Now I know what to tell my mom when she asks me for the umpteenth time why I am the only one in the family who needs glasses. (Of course it only partly explains it of course as there are 4 of us with NF and I am the only one with astigmatism ;) )
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Re: alternative cause for optic nerve damage

Postby Nathan » Tue Mar 27, 2012 5:47 am

Hi Krystena, I was wondering if you have the MRI results yet? I agree that pale optic nerve/s sounds like optic glioma. Anything that happens in the 'normal' population can also happen to someone with NF so it could be all sorts of things, however the NF diagnosis and pale optic nerves makes it highly suspicious of optic glioma/s. An optic glioma diagnosis might not be a bad thing, as in some cases prompt treatment can improve or reverse vision issues in NF. I am sorry you are going through this.

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Re: alternative cause for optic nerve damage

Postby evanrileymom » Tue Mar 27, 2012 3:54 pm

Hello friends and thanks for your replies. I do appreciate it.

The NF team including a neuroradiologist will be reviewing his case and scan tomorrow in conference. Will tomorrow eve come!? We have to see ophthamology again Thursday. They have talked with their oncologist and have a treatment place..just in case they he has gliomas. If not, they will be aggressively trying to find the cause. Evan also has mitochondrial disease which could potentially cause ONA, however it is a less common finding in Mito. than it is in NF1. Also, noone else in the family with Mito. has ONA. That's not to say that Evan couldn't have gotten it though. Everyone is affected differently, even in the same family... just the same way NF behaves. It just seems that with Evan's age and the NF, it would be from that. Stranger things have happened though. Im just thinking out loud. The waiting is killing us.

Im not sure how long the nerve has been pale. We have always went to University of KY ophthamology although I've never been that impressed with their care. Our appt was a little ways out so we took him locally. The doc there (although I think he was actually an optomestrist) had little patience for a 3 yr old but nonetheless, he dilated his eyes and told us his optic nerves were beautiful! However, he does his exam and clearly Evan cannot see well but as he examines his eyes with the lenses he says he only picks up he is a little far sighted which is common in kids his age. He scratches his head and says he cant understand why he acted near sighted and only has a slight far sighted prescription. Big Red Flag right there. Then he has a talk with us and tell us how he didnt think there was a thing wrong...nothing to worry about. Pretty much like we were over reacting because he has NF. OMG! It was clear on exam that his vision was really impaired. I thought he was legally blind. Turns out after seeing a real othamologist he almost is. We didint feel comfortable with what we learned (or didnt learn). So, upon mentioning this to Evan's hematologist, he was very concerned. He expedited an ophthamology appt and MRI. That ophthamologist took one look in Evan's eyes and asked us if he had ever been tested for NF. He did not even know he had it. So, indeed Evan's eye prescription only shows hes nearsighted because there is nothing wrong with the lense of his eyes. It's a far bigger problem. As you guys know optic nerve atrophy isn't treated with prescription.

Anyway, yes we are seeen at Cincinnati Children's NF clinic so Im sure we will get great care once things are reviewed. Lesson learned here... although closer may be more convenient, dont waste your time. Go to the specialist who know about NF. It could mean saving your child's vision!

I'll let you know what we find out.

Krystena
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Re: alternative cause for optic nerve damage

Postby evanrileymom » Tue Mar 27, 2012 9:53 pm

I got a call from the geneticist and no gliomas were seen!!

There are some brain lesionss but I dont know significance yet. This may be a mitochondrial optic neuropathy. If so, there isnt really a "treatment". Only to optimize the mitochondrial disease treatment with supplements etc.

Im having a very hard time with this. I have to be honest, I was hoping it was something treatable, even if it meant gliomas. We knew we were likely looking at a couple causes - gliomas or the metabolic/neurological. How sad is that to hope for tumors. :(

We are in disbelief with the MRI findings as his vision loss is profound...going from normal to this. Pale optic nerves and no glioma! wow
Myself and and 2 other boys have no ONA with the Mito. but Evan does? and it's not NF related? Very confusing or maybe just denail?

I wonder if there are any reported cases like this in NF in someone who does not have a second genetic disorder such as mitochondrial disease? If so, it might help tie the ONA to the NF and potentially a treatment?

Cindy... do you know of any such reports?

Could growth hormone deficiency cause it? He has an endocrinology appt coming up because of an abnormal random GH level and given the fact that he hasnt grown in forever, he may have a GH problem.

I forget to check the site sometimes. If anyone has any insight and would like to email me privately, I'd greatly appreciate it.
krystena@easiky.com

Thanks,
KR
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Re: alternative cause for optic nerve damage

Postby seesnow » Tue Mar 27, 2012 10:36 pm

Wow - glad to hear there are no gliomas, but I guess you have your hands full trying to figure out what is going on. Hugs and prayers!
Timmy's Mom

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Re: alternative cause for optic nerve damage

Postby Nathan » Wed Mar 28, 2012 6:56 am

Thank you for posting back to us Krystena. I was so hoping it was something with a clear treatment pathway. I am very sorry. It is great to read that you are at a good facility that will manage him well. I am thinking of you all,

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