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Sunday, May 6, 2012

Ocular Albinism

First, if you like this blog (and if you're here reading, I assume you probably do?), would you take just a second and vote for us at Circle of Moms as one of the Top 25 Moms of Multiples blogs!  It would mean a whole lot to us!  It's just one click, you don't have to sign up for anything. You can vote once per every 24 hours, through May 20th.

Thank you, and thank you! Now, back to Ocular Albinism.

In the weeks since Makayla was diagnosed with Ocular Albinism (OA), I have been learning so much. 

In a previous post, I told you about a mom, Claire, that I had connected with from England whose son, Jack, is the same age as Makayla.  Our children are the same age we started talking shortly after Makayla nad Jack were diagnosed.  We connected over a desire to gather as much information as possible about Nystagmus and treatment, as well as the experience of being new moms.  We have continued to stay in touch and fill each other in on our unique journeys.  One of the things we learned early on was that there are very unique differences in the diagnosis and treatment of Nystagmus in the United States and England.  You can read about some of those differences on her blog, Living With Nystagmus

When Claire learned that Makayla had been diagnosed with OA, she helped me to connect with another mom, Amy, here in the US, whose son, Liam, has OA and is just a few months younger than Makayla and Jack.  Getting in touch and exchanging emails with Amy has been so helpful.  She is extremely positive and and optimistic and has shared so much useful information with me in the short time we have been exchanging emails. 

First I want to share a page from Amy's blog, Through the Eyes of Liam, where she explains OA.  The whole time I was reading it I was nodding and saying, "yes, yes!" because it explains Makayla so perfectly!  Had I read this blog a year ago, I could have taken it to Makayla's doctors and told THEM that she had OA.  Seeing all her symptoms laid out like this, the light sensitivity, the depth perception problems, the strabismus, it makes me a little frustrated that it took a year and a half, and going to Ohio to get an actual diagnosis.

"Ocular albinism is a genetic condition that primarily affects and is limited to the eyes. This condition reduces the pigmentation or coloring of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. It can be seen in people whose eyes are green brown or blue though most often the iris is a shade of blue. The iris can be completely or partially transparent or could have small holes in its pigmentation. Pigmentation in the eye is essential for normal vision as it is what filters the light coming into the eye. If the pigmentation has any holes, the patient has Ocular Albinism, meaning too much light is getting in through the holes and causing some vision loss and light sensitivity (photophobia) for the patient. If the pigmentation is transparent or there is no pigmentation to block out the light then complete blindness occurs.

Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). The vision does not worsen over time but the vision loss is permanent. Other eye abnormalities associated with OA include rapid, involuntary eye movements (nystagmus); eyes that do not look in the same direction (strabismus); and increased sensitivity to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to the brain.

Unlike some other forms of albinism, ocular albinism does not significantly affect the color of the skin and hair. People with this condition may have a somewhat lighter complexion than other members of their family, but these differences are usually minor. There is only one type of OA which has been genetically linked in male children as having been inherited from their mother who would carry the recessive gene for OA. If ever OA is found in female children then either OCA (Oculocutaneous Albinism, of which there are several types) is assumed or the gene must be carried by both mother and father.

Treatment of ocular albinism includes using visual aids and environmental changes to expand the limits of vision. Surgery for strabismus is sometimes helpful, but usually does not result in fine coordination of the eyes. Surgery can improve the field of vision if the eyes are crossed, and may improve appearance and the child's self image. Currently there is no cure for Ocular Albinism.

List of issues associated with the lack of pigment in the eyes:

• Reduced visual acuity from 20/60 to 20/400 and sometimes as good as 20/25 in African-Americans,

• Nystagmus - involuntary back-and-forth movement of the eyes,

• Strabismus - crossed eyes or "lazy" eye, and

• Sensitivity to bright light and glare.

Definition from the NOAH website:

”Ocular albinism in an inherited condition in which the eyes lack melanin pigment, while the skin and hair show normal or near-normal coloration.”

Definition from Wikipedia:

”Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes.[1] There are multiple forms of ocular albinism, which are clinically similar.”"

Secondly, One of the things I found really interesting on her blog was this interesting video that was created by a woman with albinism to help describe how someone with OA might see.

Of course, there are many other things that may play a role in how someone with OA might see, like astigmatism and what not.  As I understand it, people with OA often have a very bad astigmatism which further impacts their vision.  From what we can tell, Makayla's near sighted vision seems very good, and the doctors have said that she has only a very slight astigmatism.  One doctor predicted she may see as good as 20/40 or 20/60 (for perspective, my bad eye is 20/40 and I can drive without corrected vision).  And Dr. Hertle described her transillumination as mild, so I'm hopeful that this video may demonstrate even more light interference than Makayla has.


  1. Thanks so much Ashleigh for giving us info about this, I had no idea.  I also voted for you!!

  2. Thinking about you and your family! Thanks for the info.

  3. The love and respect for my daughter has just grew, if that was possible. Thank you

  4. That is wonderful to hear. I would love to know what specifically sparked that. :)

  5. Very interesting info never heard about that before.

  6. I did not know about this prior to reading this! I learned something new today, thank you!

  7. Thanks for this blog! I too have a kid with OA. Great to know other parents are out there.

    One comment/critique... your polkadot background makes it really hard to read. Especially considering you're writing about vision issues, and many of your readers may suffer from low vision. Just a thought.

    thanks, and keep it up!

  8. Ashleigh, what a blessing to have basically started your own support group!!  It's so important to be able to share with someone that "really" understands what you are going through!  Blessings to you and yours.

  9. I agree, Carla! this blog has been so helpful to me over the last year and a half.

  10. My 6 year old son has nystagmus and ocular alibinism and im so glad that i have found this site. Ive kept putting it to the back of my mind in the hope that cormac will get better but after reading this it makes me think that he CAN lead a normal life. Keep up the great blog i look forward to hearing more :-)

  11. Hi Sarah! I am so glad you found my blog! There really is not enough information out there for OA and Nystagmus! All of the best information I have gotten has been from other moms!

  12. Hi Ashleigh, I'm from Australia and I have an 8 year old with OCA. He was diagnosed at 11 weeks of age - we have no others with albinism in our family so it was a huge shock to know that my husband and I were obviously carriers of the gene. My son also has high-functioning autism so it has been a long road trying to help him but I just wanted to let you know that he is thriving this year in a mainstream classroom at his local school. He has a vision support who comes into the classroom for a few hours a week and enlarges his worksheets and gives him access to larger print books. He is also finding a lot of use out of his iPad which is fantastic for increasing the size of pictures and text. He is legally blind (6/60 here in Australia which I think equates to 20/200 for you?) but he sees enough to get around and has developed so many coping mechanisms, it is incredible to see. I look forward to reading more of your journey and you can also read some on mine over on my blog http://www.myhometruths.com It's great to find others who are dealing with albinism as well, lovely to have found you!

  13. Hi Kristy, Nice to "meet" you! I am now following your blog. If you are on Facebook we have a OA/OCA facebook group for moms of children with albinism. http://www.facebook.com/groups/160137417453459/

  14. Thank you for this post. I have OA and so does my brother and male cousins on my moms side of the family. My grandpa and his brothers also have it. I am 36 and my parents found out when I was an infant. If you have any other info or contacts I would love to share. Fortunately I have a good low vision Dr. Who is familiar with OA.

  15. Michele SparlingJuly 8, 2013 at 12:49 PM

    Hi. I am a Mom with 7 year old who has oculaocutaneous albinism (affects vision & skin). I'd love any advice I can get. I look forward to connecting with other parents who are dealing with these issues. Michele

  16. Hi there. I'm 26 and have ocular albinism. I've been able to live a normal life. I've been involved in sports my whole life, was able to get my drivers license when I was 23, and many other things that my parents didn't think i would be able to do. I'm currently a real estate professional and haven't let OA slow me down. I have 20/50 in my left eye and 20/70 in my right eye. I'm currently working with an eye therapist to get rid of my lazy eye and have both my eyes work together. Hopefully getting both my eyes to work together will allow me to see better and help with social interaction. Its awkward for other people to look at you when your eyes are all over the place. I hope one day there is cure for OA, so I can see how a normal person sees. That would be awesome! I know if I can live a normal life with this genetic disorder anyone else can!

  17. I find this interesting because usually only males are affected but there are rare instances where females are affected. Does this mean that her father is affected and you are a carrier? Which would mean she got the mutated X chromosome from her dad and the mutated X chromosome from you? This runs in our family and I am writing a research paper on it for my exceptional child class. S

  18. Hi, I also have ocular albinism and I just wanted to let you know that even though your son will not get better, vision wise, he is able to run a normal life as anyone else with some limitations, but it will depend on how you raise him for him to feel that he can have a normal life. I am 26 yrs old and was born with ocular albinism and have nystagmus and that has not stopped me from leading a normal life. When I was small at school they offerred my mother to put me in special ed classes because of my visual conditon and she refused and had me put into nomal classes. I used glasses which did not help much but I also had loving teachers who helped. I never wore or used any visual aides as my mom did not know any of that was available, so I lead a normal life until now just knowing I could not see far away. I also have a 5 yr old son who has the same condition and am also trying to raise him the same way as my mom did with me to feel that he can lead a normal life as well. I now wear contact lenses and am able to drive with a bioptic lens so limitations are not so much limitations as long as the person is positive and has the potential to reach a goal. God bless you and your family and hope everything goes well with your son

  19. Ocular Albinism surgery correcMay 30, 2014 at 4:01 PM

    There is a artificial iris implant called brightocular that treats or cures ocular albinism. The prosthetic implant also improves nystagmus
    Here is a video of a 13 year old girl that had the procedure. https://www.youtube.com/watch?v=LVXrieYu5As&list=UUHk3ith7gMLZw8N1I14Pncg

  20. Hi... I just wanted to say I have a fourteen year old daughter with oa. Do you know anyone with this condition who has their drivers license? As she is getting closer to that chapter in life we just try not to think she won't get it, but I am unsure if she will. My gut tells me she won't but I haven't told her that.

  21. My husband has 2 un discovered genes that are causing traits of albinism, I say traits only because the medical field said so!
    They are not the ones living with no help, my husband and two of our children are.

    The video was so awesome, I cried because my husband said Thats my world!
    It will help our family and friends understand what it is like for them.
    My husband and our 2youngest children do not have nystagmus, but they see as if they do?
    When they are really mad or very relaxed their eyes quiver like nystagmus.
    Our son will be 3 in april 2015 he refuses to use stairs he yells for his dad!
    But the Dr's. we have wasted time and $ with so far, state they are not bad enough or OCA 1 ,no help.
    We teach our son and baby daughter the best way we can, study and watch what they struggle with.
    We never baby them or treat them the same, just give them extra time.
    What helps is making daddy their hero.
    I tell them when its Tough: "find your tricks", "do what daddy dose" or "do daddy tricks! " If daddy can do it so can you! "😄

    My husband can work and drive (tricks!)
    But he has been treated as if he is stupid by co-worked because he can't see fast enough or too much light. If you ask him to pick somthing out of a pile he can not. Going to the store can take hours!
    Like I said the DR's Don't live with it.
    I always tell my husband " show those pigmented bastards how to do it!"

    We do not want a cure, we are proud of our family!
    We just want it on medical records ,this is what they have so they get the help they need to get the right tools to make their lives easier?

    I found in the medical field their is so much stereo types on albinism, I thought every albino is so very different, mine are undiscovered and they need the way they see heard !
    We are about to see a Dr. that see "those that have undiscovered genes ."
    Wish us luck!