Ocular Albinism with Nystagmus

porterlove525 · September 2014

Anyone here have this rare condition or an LO or know someone with it? DS was just diagnosed on Thursday at a pediatric opthalmologist appointment.

It's a complete shock to us although we've noticed the nystagmus since birth. We're setting up an appointment with a genetic counselor to determine the exact form of albinism and whether or not I am a carrier and are likely headed to Boston or out to Minnesota to see a specialist since our local PO can diagnose, but admitted that he really doesn't know much about the disorder and we have a million questions of course.

I'm sure it's a stretch, but wanted to see if any other mamma's here can relate?

smushi · September 2014

I actually grew up with a guy who has this. He wears glasses, but it never seemed to really bother him. His eyes constantly are rotating. He's really fair with essentially white hair and light blue eyes.

JessieAlbin · September 2014

My first thought was, "albinism, hey I'm an albin!" And then I realized that was um, really not even close to what you were talking about. Whoa, ego.

zazu13 · September 2014

Hope you get the answers you are looking for. I hadn't even heard of the disorder and had to google it. I'm sure your mind is racing. Good luck at the appointment and all the best to you and your family.

Crissers19 · September 2014

I haven't posted here in a long time but thought I would comment in this.

My husband has nystagmus with null point (off-centered focal point). Although recently asked by an opthomologist if he was ever diagnosed with ocular albinism because he displays a lot of the traits, his mom said when he was evaluated as an infant and that was ruled out. I guess it's just congenital nystagmus, but who knows because I'm not sure he saw anyone that specialized in nystagmus.

Now my LO is displaying nystagmus and maybe a little bit of a null point as well. Ped recommended seeing a opthomologist and we are currently researching neuro-opthomologist or opthomolgist who specialize in nystagmus/strabismus here in Chicago.

I'm not too worried about it though. Despite his visual impairment, my husband had lived a very normal and fulfilling life. Due to the lack of depth perception that the nystagmus caused he could never play sports that involved balls, had a little delay in his fine motor skills, and has a few restrictions on his drivers license.... But no biggie!

My husband's little sister has nystagmus too, but in very mild form.

Crissers19 · September 2014

*has lived. My husband has lived a very normal and fullfilling life. He is still alive...lol. #-o

ambarnett1 · September 2014

My husband has a nystagmus. I don't know how the albinism plays in, but he can see fine with contact or glasses. Unfortunately, he was made fun of in school for it, but he obviously is fine now.

porterlove525 · September 2014

@Crissers19‌ I hope your son's condition turns out to be mild as well. Thank you for sharing your story. We're expecting my son to have some struggles and limitations, but trying to stay optimistic so hearing positive outcomes helps so much!

@ambarnett1‌, the teasing is what worries me the most

but the PO did say his nystagmus could lessen and I never even noticed it, my husband did...so maybe it won't be as noticeable to the kids in school? Kids can be so cruel.

ambarnett1 · September 2014

@porterlove525‌ if you can barely notice it then I wouldn't worry about the teasing. My husband's is very noticeable if you're talking to him. Don't worry though. Cross that bridge when you get to it.

OJMommy3 · September 2014

I'm a lurker, not a poster but my daughter has this as well.

My ped referred me to the pediatric opthamologist at 2 months. DD has a mild form of occular albinism and noticeable nystagmus. We have a follow up with the pediatric opthamologist next months, for next steps.

I have done some research but there isn't much out there and so much of it is extreme, I get worked up.

Feel free to PM me if you want to chat more.

Crissers19 · September 2014

For those looking for resources, I found this page to be helpful: https://nystagmus.org/new/links.php. There are a few links specifically focused on ocular albinism there. The main site also has a discussion board. Although no one has posted on it in a couple of years, I've read a lot of the post. It's helpful to read others' stories.

I'm kinda bummed that certain sports might be out of the question for LO, I played sports and I think you learn a lot by being part of a team. His future ability to drive is also a concern as it is with a lot of people with nystagmus.

I think the potential for teasing will depend on the school/class. I feel kids that are teasers will tease someone no matter what, with or without an impairment. I was teased badly sophmore year in HS just for having a short haircut. However, some schools/teachers do a great job with promoting a respectful atmosphere.

smushi · September 2014

The guy I knew was a great linebacker in HS. He always joked about how exciting it was for our small town optometrist to have him as a patient because it was so rare - he'd get invited to conferences and such.

porterlove525 · September 2014

It has all been a tough pill to swallow. Right now we have no clue how good/bad DS' vision is. We know that his nystagmus is noticeable, but not severe and that he has pigment in his hair, skin and eyes. In fact, his eyes are darker than MH's or mine! DH and I were both blonde babies, he has light blue eyes and mine are green-hazel.

Our docs here don't know much about albinism in general so I've been researching and calling NOAH and other organizations and trying to book an appointment with a specialist out in Minnesota so we can better determine how mild or severe DS' disorder is and what we can do to help stregthen his vision while he's young. It's crazy to think he could have 20/40 vision or he could be worse than legally blind. We're optimistically hopeful that since he has pigment and is ahead in his development, definitely smiles, laughs, looks for us and his toys and can track objects (albeit with some bouncy eyes) that his OA will be mild. Only time will tell.

It's so helpful to hear about the good and positive stories though! Keeps me hopeful. We have no relatives that have OA or OCA that we've ever known of so this is a complete shock.

smushi · September 2014

Lots of hugs, momma! Hopefully you'll get solid information soon. It won't define your LO. It will only add to his character.

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