NOAH AOC

Anyone have knowledge about the possiblity of Rus (just turned 1) not having any nystagmus with the albinism. Everything I've read has nystagmus being the first listed visual symptom next to iris tranilumination (at least for things that anyone would notice).  A geneticisis diagnosed him with OCA type 1 and said wait and see if it developes into 1a or 1b.

 I want to be optimistic but I'm afraid of getting burnt - "again". I have to look VERY closely to find an occational beat of nystagmus and I've not seen any iris transilumination for 2-3 months now.  I'm wondering if it's 'improving' now and will just get worse in the future.  I know I should be doing flips - again, I'm just afraid of getting my hopes up.

Jill, I know you've said that Andy has "control" with his. Did your PO tell you this?

 I wish I would have thought of this a week ago to send along with someone to the conference.

 Thanks for any info.

-paula

Hey Paula!

Happy Birthday Rus!!!

We thought Andy seemed to control it, but the docs have said it is impossible to control. His nystagmus has slowed down since he was 3 months. It was a constant scanning down to a counterclockwise rotation. Compared to the people we saw in Vegas, Andy's nystagmus is not that noticable. I might be wrong, but, I do not think Matt has a nystagmus, Roxanne's son. Have you been abled to do the genetic testing for Rus? I know what you mean by not wanting to get burnt. I would take him to PCO, see Dr. Appell. She is wonderful. They have funding there that can help pay for the appointment. I have the name of the person if you want to call them. I would be questioning it too. Marc says the body is always producing pigment. Katie is still gaining pigment. She went from Dark blond to Brown hair. She went from Blue-Gray to Green and now almost brown eyes. I hope he does not have it, but I would go get another opinion. Is he walking yet? Do you think he has a vision problem? We thought Andy saw great, he has great functional vision, but his actual vision was 20/400. We were heartbroken. We will add him to pur prayer list! Maybe he is just a natural blond!

Hi Paula,

We went to one doc who said Matthew has a very little pigment in the back of his eye but no nystagmus but admitted he had never seen anything like it.  Then when we visited dr. Hertle he tested Matt and said, look chin down he has nystagmus and sure enough he did.  Then Dr. Yang tracked Matt's eye movement.  Dr. Yang said there is no basis for clinical and subclinical nystagmus.  What is a problem and what is not. Both docs said 20/25, which is awesome. At the end of the day I have caught Matt's nystagmus when he watches t.v.  He mostly looks like he is not paying attention or has eye tracking issues. Now if I hold his book he is reading to his null point, his reading skills improve. (without dr. hertle I would not have known) When my neices and nephews come over and it is so odd to me to have them looking straight at me when I talk to them.  Neither of my kids have a direct gaze.   I get quite a few pics with translumination but not like I did when he was little but with Lexie, I do not. Since her eyes are usually going.  Matt is very photophobic and was very light and some, what seemed translucient hair until 3 when he shed,(there was little blond hair everywhere) then a mix came in that had more pigment.  I remember when both of their eyes changed as infants they were almost purple before they went blue by 5 weeks.  Then when they would climb the steps their whole eye would be red.  I would think my kids have oca1b.  They have dark eyelashes and if I had known about his albinism diagnosis before he was 3, I might of thought oca1a could have been possible but not with Lexie.  She can actually tan and has some pigment in her hair from earlier on.  It is odd how it manifest himself from child to child.  I have heard another adult say their nystagmus is not noticable unless they are reading or concentrating on something. 

I do not know if this helps but I know Matt is not the typical case scenario we see on the board.  I wonder if there are more milder cases that go unnoticed like his.

 

Thanks ladies. 

Rus is not walking yet but he has been 'walking' behind his new push toy - almost running when he get to the kitchen floor.  He doesn't see things well far away (like more than 8 ft). The vision therapist doesn't do anything with him, and the developmental specialist has him right on track if not above normal.  The last PO apt, the dr was more positive than any other apt.  Jeb's hair was very very light when born (maybe a little more yellow than rus) and his hair is getting darker as he gets older (just like mine did).  When rus was born, he had a strip of red hair 3 in wide across the back of his head (just above his neck).  It just makes me think too much. I also have cousins on my fathers side who still have almost white blond hair but they tan (the surfer look thing) and don't have vision issues.

We aren't doing the genetic testing. Not thought necessary. Ted said he saw some transilumination last night..... I don't know. 

Thanks again,

I'll email more.

paula

 My son is 14 yrs old and has OC. He had always looked up until he had strabismus surgery which changed his null point to directly in front of him and now he can look straight ahead. As for the nystagmus, he still has it, but last year he got contacts which slowed it down quite a bit. We notice more when he plays video games, but everything else is better. Incidentally he is also not white blond and tans a little. That is what makes him look like everybody else. It's a double edge sword though. When you look so normal people don't know that you don't see as well, and certainly wouldn't expect albinism. Sometimes there are misunderstandings. I always tell him to be honest and up front about it, it will save you a lot of problems. But right now he is a teenager and doesn't want to admit that he is any different than anybody else. I hope this helps.

Wendy 

My son's nystagmus is barely noticeable. His eyes "wobble" in a circular motion rather than the pendular. You have to REALLY be looking in order to see it. Alison

Happy Birthday Rus!

I too have heard of rare cases of albinism with no nystagmus.  Zach has obvoius nystagmus though it has improved a lot since he was a baby.  It is totally involuntary.  As for iris transillumination, you can't tell Zach has any unless the light catches him just right, usually when he's in the bathtub for some reason.  It's always present in pics, though.

Thanks for the responses Alison and Wendy.  It is something that "exists".

I've been watching to see if it has changed direction from the slow pendular he had at 4 months but I wasn't seeing any this evening. He doesn't have any sort of aids - glasses/etc.  From his highchair to the kitchen chair - he seems to look right at me and will smile back and do "so big".  What a change from 7 months ago. I need to count my blessings.

I just need to be patient. He's growing up fast enough.

Thanks again !!!

Thanks brittany. I'll look in the bathtub next time.  He usually has his eyes shut because the toddler is splashing so much. I thought maybe since the days are longer - I don't know. I use to see it on the changing table, but haven't lately.   I dont' use flash on pictures anymore - usually. I get red eye from everyone, toddler, husband, myself, the dogs, or glasses flash. I'll use a higher speed shutter and try natural light.

Thanks for all the wishes too.

My 8 yr old daughter, Kay, has albinism with no nystagmus.  She never has had any.  This is why she was only diagnosed at age 4 when we started noticing that she had vision issues.  Yes, she always wore sunglasses, because I noticed at a very early age that she cried and couldn't open her eyes in the sun.  She also wore plenty of sunscreen, but so does everyone else in our pale family.

 Kay's vision is 20/80 uncorrected and 20/40 corrected.  She has yellow blonde hair and does not tan at all.  Hope this helps.

 Jen

I met a lady at the Convention that had a son, I think he was 17 and they are from northern VA.  I know their names, but I didn't want to invade their privacy.  He has no Nystagmus.  His vision is 20/40 and his family didn't even know that he had Albinism until he was in his early teenage years.  I am sure this is not a usual case scinario, but I wanted to share it with you.

Daniel had no nystagmus at all until he was 5 (after diagnosis)  and even now my kids hardly have any nystagmus at all, that's why Daniel was diagnosed so late, there is a common belief in the medical world that no nystagmus means no albinism , he had to have VEP to confirm diagnosis as the genetics professor disputed the original diagnosis.Their nystagmus is only noticeable if they are tired, unwell, stressed..... Most of the time their eyes are fairly steady unless you get them to look toward their bad side, actually most people in the albinism community are amazed at how 'still' their eyes are! My cousins are the same.

When I was out in the hall way talking to Dr. Summers at the convention, she told me the following story.  She has been following a child with Albinism and he came every year for an annual check up with her.  One year, the child's mother asked if she could bring her older son to be fit for contacts when she brought her other child with Albinism in to be seen.  Dr. Summers said sure and the mother brought both of them in.  She said she was extremely confused to find that the oldest child also had Albinism.   She said he had almost normal 20/20 vision and no nystagmus.  She said it was the first time that she had ever recognized that you could have Albinism without Nystagmus.  She said that she has seen it a few times since.

This is all so very interesting!  I wonder if Zach's PO has a clue that albinism is possible without nystagmus.  Who knows.  Anyway, Dr. Summers' story is also the one I had heard about albinism w/o nystagmus.  I think she mentioned it at the 2006 conference.  Other than that, I had never heard of it!

This has all been VERY helpful. It has put answers/reason behind some questions.  I was kind of getting the feeling that the PO was second guessing herself but then the geneticisis "confirmed" albinism for her.  Thus, I started second guessing, etc....

Rus is photophobic - doesn't cry but squints and usually keeps his sunglasses on, at least until later in the evening.

Thank you again so very much !!!

-paula