NOAH AOC

HI my son Reece has never been through genetic testing. Is this necessary? he will be 9 next month. The day he was born the Dr. told us he was born with Albinism. We went to different Doctors about his condition and Opthalmologists. We don't know if he has Ocular or Ocutaneous.  What are the benefits? Reece has no pigment in his eyes, skin, hair. He sees an Opthalmologist regularly, Vision specialist, Dermatologist.

Thanks for your help,

Kathy

Kathy Peterson:

We don't know if he has Ocular or Ocutaneous.  ... Reece has no pigment in his eyes, skin, hair.

With no pigment, that sounds unambiguously like oculo-cutaneous albinism.  Genetic testing probably won't reveal anything you don't already have good reason to expect (sounds like OCA1), and most probably will change nothing you do.  I'd say it's potentially useful to him as knowledge for any reproductive plans he will have, but by then he can decide for himself, and it may be cheaper down the line, who knows.  Given the classic symptoms (which apply to my two children also), I don't personally see the benefit for children.

Totally agree that no pigment in skin or hair usually indicates OCA1, most often OCA1A, ask the opthalmologist & dermatolgist what they think.

My children have not had genetic testing although they have been seen by genetics. Think it depends on who the children see as to whether or not they are tested. Some of my friends children were screened routinely after diagnosis and others like mine have never been tested. It isn't neccesary unless there is a dispute of diagnosis and even then my son had VEP for definitive diagnosis as VEP is non invasive. Genetics is a personal choice, for us we were not going to acheive anything that made a difference to the care path already in situ so I have never pushed for it. Some people just really need to know, depends which category you fall into, there is no right or wrong answer. My children know they can have genetic blood work if they want it and in the case of my middle child to see if she is a carrier.

My kids are OCA1b (probably), Dan is showing signs of temperature-sensitive OCA this past few months

could someone please explain the difference between OCA1a OR OCA1b ..... I still dont think I totally understand that. lol

Hi Cheryl,

 I think the best explanations can be found off of the University of Minnesota albinism site--there is a link to it under related links on the NOAH home page.  It is a little scientific, but not that difficult to understand. 

OCA! is subdivided into OCA!a and OCA1b.  I believe OCA is the only type of albinism that can be diagnosed visually at birth by the white hair and skin and the absence of pigment in the eyes. (The doc KNEW the minute I was born in 1959, and he was just a family doc, no specialist at all!)  The difference between a and b is that OCA1b persons develop some pigment in their hair and sometimes skin over the course of their childhood and teens.  (This is why I question those threads about the nutritional supplements that supposedly increase pigmentation, chances are those children have OCA1b.  While OCA1a individuals stay "white" for their entire lives, OCA1b persons exhibit a wide range of pigmentation, it used to be called 'yellow albinism' because many of those affected have yellow hair.

 Double check my facts, but I think I got the basics right.  Hope this helps.

Joni

Here is the link that explains it well:

http://albinism.med.umn.edu/facts.htm#class

Basically speaking OCA1A tend to have no pigment whereas OCA1B tend to have reduced malfunctioning pigment although there are so many variants the boundaries can be very blurred. Both are born white haired but OCA1B have some pigment even though it doesn't function well but their hair, skin & eyes can darken but eyes do not develop properly. When Daniel was diagnosed the 'in phrase' back then was tyrosinase negative and tyrosinase positive for OCA1A&B, which even though it has been dropped actually helped understand the differences.

 

Guess I should have just put ditto Joni, you obviously type faster than me LOL

I totally agree about the supplemets comment too, we've always known Daniel is OCA1B but his pigment only really came to life this year at age 16 whereas my little one's hair got darker much younger.

thanks for the info...... Im not sure which my son would fall under.... he has very white hair, and blue eye's w/ a violet tint, but has a darker pigment in his skin.  He is even 'darker' than me and my oldest son, who are both very very fair skinned.

Oh my goodness, I went to the link and now I am more confused, lol...

So, if OCA1b is a mutation, does this mean that me and husband do not carry that albinism gene? It states leaky gene. Hummmmm, very interesting.

Now, I am really curious which type he has. He has dark yellow hair, but white highlights if that makes sense and deep blue eyes. His eye lashes are yellow too. He is light skin, but I am of English and Irish decent, so I am very pale anyway. Hummmmm

No, you and your husband still carry the recessive albinism gene.  I just don't really know how to explain that part of it.  I think by mutation they mean variety or subgroup of OCA1.

As for what type my brother and I have....

Well, neither of us were ever tested and I doubt that we will be.  I know with certainty that it is OCA1, as that is the only type that is born with the snow white hair.  As I said, we were both diagnosed at the moment of birth by the old family Dr. 48 and 46 years ago.  You can even look at our black and white baby pictures and tell by our eyes!  As for whether we are OCA1a or OCA1b, I tend to think it is OCA1a for a couple of reasons.  As far as I can tell, neither of us developed any pigment as we matured.  We also tend to fall towards the more severe end of the low vision spectrum--not the worst by far, but my better eye is 20/200 corrected and his is slightly worse.  While it is not a universal trait, those with OCA1a tend to fall in the lower visual acuities--although there are many exceptions to this.

When I was pregnant with my first daughter--she is 21, the Dr. who had delivered me asked my mom (who was still his patienbt) if I was going to do any genetic counseling or testing.  He was just curious.  I didn't, it was never even suggested to me by my doctor!!  I would have declined anyways, because I knew I had albinism, that if my husband was a carrier of the same type of albinism (as he obviously did not have albinism with jet black hair, dark skin, dark brown eyes--Maltese descent, no nystagmus or other albinism related vision problems) our children would each have a 50% chance of having albinism.  At the very least, they would all be carriers of the recessive albinism gene.

My three daughters are all aware they are carriers.  The oldest is married with two small boys--two and a half and very soon to be one year old.  Neither of them have albinism, but they are blonde and blue eyed.  Given their parents ancestry, this makes sense.  My daughter knew that if her husband also carried the same recessive gene as her their children each had a 25% chance of having albinism.  She wasn't overly concerned, as she had grown up wiith me!!  Neither of us based our child bearing choices on whether the child MIGHT have albinism.  To us, there are far worse things that could happen! 

For some people, genetic testing is for peace of mind as they need to know the definitive answer.  Unfortunately, with the tests for albinism, you don't always get that.  Sometimes, you get no answer, or only half an answer--as in they have OCA1, but we can't determine if it is 1a or 1b. 

Since the 'treatment' for both OCA1a and OCA1b are the same, no one should feel guilty about whether or not they were able to have their child tested. 

Sorry, I'm rambling--that's what happens when I am tired!

Joni 

Wow Joni that is great info! I thought about last night and realized we had to carry the gene.  It is just wild that what is it 1/70,000 carry the gene. And I am lucky that me and my husband have it! I love Andrew so much and we are blessed to have him!!!

Oh and as many of you know I want to do genetics on Andrew. Because we have blond hair blue eyes in the family. I just need to know. If Andrew did have the snow white hair, I would not do the genetic testing. To my knowledge that is obvious. His X-linked test did come back normal.  Children's Hospital of philadelphia did say if he did not have the x-linked the next test would be the OCA1b. I am in no rush, I will do it at some point.

Thanks again Joni!

Jill

Your welcome, Jill!

 I guess my biology degree comes in handy once in awhile when figuring out inheritance patterns!  As for having Andrew tested, I would, too!  I know if I wasn't so obviously an albino, I would really want to know 'for sure' and of course that would involve finding out what type I had.  While it is entirely possible that I do have OCA1b, if I do  I have very minimal pigment and am on that end of the spectrum.  As for the amount of pigment determining how photophobic one is, it really doesn't.  While I am photophobic, it isn't nearly as bad as many people, and I can function without sunglasses, although now that I found some that work for me I really prefer to wear them. 

Your kids are so cute--Andrew reminds me a bit of my younger grandson who will be one on the 30th. 

Joni 

Hello again

 Una mentioned that her son may have "temperature sensitive OCA" - what exactly is this does anyone know and what kind of signs does one look out for?  I have failed to get a good understanding of this aspect of albinism so if anyone can share their knowledge I'd be grateful!

 

Thanks

 

bernice:

Hello again

 Una mentioned that her son may have "temperature sensitive OCA" - what exactly is this does anyone know and what kind of signs does one look out for?  I have failed to get a good understanding of this aspect of albinism so if anyone can share their knowledge I'd be grateful!Thanks

 

Hi Bernice

It is a subtype of OCA1B where the hair that is cooler gets darker, ie head / arms /legs but body hair in warmer places stays light. I say Daniel may have temp sens OCA as his whiskers have gone very gingery, they were pure white this time last year and literally changed overnight. His hair has darkened quite a bit too but not sure if that is from the hair gel, even the barber asked him if he had dyed it blonde.His hair has had a yellow tint for years, he was not as white as OCA1A but much whiter than his blonde friends. His eye lashes, arm and leg hair are still very white. He still has white skin that doesn't tan. It really wouldn't surprise me if he has temp sens OCA, he doesn't want testing as he has had lots of blood work done over the last couple of years for other reasons.  I am just amazed at how dark his beard is becoming- actually I am amazed my little boy is old enough to grow a beard- how did that happen LOL

It could be just how he his OCA manifests itself as Katie is already turning into a strawberry blonde, her hair gets darker by the day, eyelashes are sandy coloured but despite all that pigment, there is very little pigment at the back of her eye and she is very photophobic.Here she is hugging her friend with OCA1A

This photo is exactly 2 years after the disney rollercoaster photo in my sig, see the difference in Daniel's hair!

 

Hey Joni.....

Thank you for saying my kids are cute. Andrew will be 1 Dec 23rd.  Oh and Andrew is not very photophopic. He loves looking out the window. His eyes will water when we are outside and he will not wear sunglasses.

Una....

I am not looking forward to when Andrew starts growing facial hair, lol. He is my last baby. I know know it will be faster than I think, lol!

Jill