NOAH AOC

They said my son was negative for OCA1. And "presumptive positive for OCA2" ....

How can they call it a "confirm" if its called presumptive? It doesn't make any sense to me at all. How can a presumption be a confirmation?

Hello...

I was told my son either has x-linked ocular albinism or OCA1b. He was tested for the x-linked and it came back normal. Now, we are assumg he has the OCA1b because of his coloring. He does have pigmentation. His eyes are a deep blue and his hair is yellow. Now, I thought OCA2 was for people of color with albinism. Now, your son looks like the same coloring as my son. I wonder if Andrew is OCA2. His VI teachers swears he does not have albinism and just a nystagmus because of his coloring. I told her there are different degrees of albinism. Well, at least they have some pigmentation so they (hope) he has better vision than we thought. I need to do some research. It does not make sense what they are saying. I was told they were going to genetic test Andrew for OCA1b. Now that test is only 80% correct I think. The x-linked is 90% II think. I can't remember. Does he have an appointment to discuss the test? People are going to say it does not matter, but I am a curious one. I want to know what my son has too. And if his sister carries the gene as well. I am still trying to educate myself on this genetic stuff.  Please let us know if you find anything further....

Jill

The did test my son for OCA1b first as well. That came up negative. Then they tested him for OCA2 which came back confirmed in one gene. I agree that this is all confusing. We did go back on thursday for our followup. They didn't do a fantastic job explaining things. They actually gave us materials from NOAH for more information.

I think that they ruled out the possibility for my Andrew having the x-linked one because they are all pretty confident that my daughter has it too. Therefore it can't be the x-linked because girls can't have that one...i dont know...

OCA2 is most commonly found in african americans. Rather, whenever an african american gets albinism, its always OCA2. But now they're saying that OCA2 is the most common found type of albinism. And that the longer its around, the more and more white kids are being diagnosed with it. They told me that its possible that some of the kids they lumped into OCA1b might well be OCA2, but didn't know it. The diagnosis of OCA2 is only about 3 or 4 years old. Prior to then, they grouped them in OCA1b. And the testing for 2 is only 66% accurate or something. They told me even if he came back negative they would've said he's got it anyway. I guess this type MUST come from both gene's (from mom and dad) and for my Andrew, it was only confirmed for one gene. The second gene is unreadable. I mean, they know its gotta be positive, but they're just not that good at deciphering what they're looking at. its all so confusing. I guess there was some P protien involved in my Andrew's as well.

I think thats kinda ignorant of your VI teacher. She needs to do some research. This man that knows my husband looked at my son and said..."he's not a true albino, like when you see an albino deer, its only a true albino when there's no pigment at all he'd have red eyes and completely white hair..." That was completely ignorant as well. I told him that's a common misconception, and that there are many degrees of albinism. Albinism is varying degrees of lack of pigment. Maybe consider printing off some information about OCA1b and OCA2 for his VI teacher and explain that it varies. My Andrew's VI teacher has been teaching for 25-ish  years and had an albino years back. He too ended up getting darker hair and had nystagmus. People just make the wrong assumptions.

Based on my descriptions of my son when he was born, they assumed he was gonna be OCA1b as well. He had darker (more yellow blond) hair when he was born. It fell out and grew back in whiter. That was an important key to them to decide he was 1b or 2. They automatically assumed 1b because they know my son isn't black. But said they'd test for 2 next. He was negative for 1b and positive for 2. I think its pretty possible that your son is 1b or 2. The origional paperwork they gave me described the two nearly the same, if you don't count him not being black. (and now, we're not by the way, we're german, french, irish english and scottish).

In the end, i do think the genetics was a waste of time. Yes, they confirmed it, but they didn't tell me much of anything after the results came back in. If you feel the need to get your son tested, by all means, go for it. It made me feel better to do the testing. But now, I told them  I don't want to go back. If there are changes in diagnoses, then maybe sure. But at this point, there's no reason to go. We know he's OCA2. We know he's got nystagmus and his vision problems. But all they want to do at this point is research. They want to test myself, my daughter and my husband. Just so we're added to research studies. And they won't even necessarily give us the additional test results. ugh. anyway...i'm gonna go see if i can find the paperwork that they gave me in 1b vs. 2. If i find it i'll add it for you.

I hope to hear back from you soon. And thanks for talking with me.

Joyful

OK--i found the paper work they gave me before Andy's blood test came back. They gave me print outs on both OCA1b and OCA2. It's from genetics.org... It is from and article by Richard A King, MD. Written in January of 2000 and updated in October 2004. I tried to find the link for you, but i don't have access to it, So i'll type out the descriptions for you.

"OCA1B. Affected individuals have white or very light yellow hair at birth and start to develop obvious hair color by the age of one to three years. The debelopment of scalp hair pigment is progressive and hair color usually goes through the stages light yellow to light blond to golden blond to dark blond to light brown, but may stop at any color. The eyebrow hair color develops in a pattern similar to that of the scalp hair, but the eyelash hair often turns darker than the scalp hair.

"The skin color remains white but often appears to have developed some generalized pigmentation. Many individuals with OCA1B tan with sun exposure. Pigmented nevi and freckles develop with time.

"Iris color remains blue or change to a green/hazel or brown/tan color. Globe transillumation shows peripupillary clumps or streaks of pigment in the iris that appear like spokes of a wagon whell. Fine granular pigment may develop in the retina. The development of pigment in the iris of retina does not affect the nystagmus, which persists throughout life. Visual acuity is usually between 20/100 to 20/200, but may be 20/60 or better in some individuals. "

This one also stated that genetic testing for OCA1b is: "mutation detection rate: 2 mutations: 37%, 1 mutation: 63%"

OK...the packet I got on OCA2 is much more lengthy and hard to give an all grouped together description. I'll type out what I think you'll want to read...again this is from Richard A King MD and written in July 2003 and updated June 2007.

"Oculocutatneous albinism type 2 (OCA2) is characterized by hypopigmentaitn of the skin a nd hair and the characteristic ocular changes foun in all types of albinism, including nystagmus; reduced iris pigment with iris translucency; reduced retinal pigment with visualization of the choroidal blood vessels on ophthalmmoscopic examination; foveal hypoplasia associated with reduction in visual acuity; and misrouting of the optic nerves at the chiasm associated with alternating strabismus, recuded steroscopic vision, and an altered visual evoked potential (VEP). Individuials with OC2 are usually recognized within the first year of life becasue of the ocular features of nystagmus and stabismus. Vision is stable after early childhood and no major change or further reduction in vision occurs related to the albinism. The amount of cutaneous pigmentation in OCA2 reanges from minimal to near-normal. Newborns with OCA2 almost always have pigmented hair, with color ranging from light yellow to blond to brown hair color may darken with time, but does not vary significantly from childhood to adulthood. ...

"visual acuity in OCA2 is generally better than OCA1...ranges from 20/30 to 20/400 and is usually in the range of 20/100 to 20/200. Vision is stable after early childhood and there should be no major change or further reduction in vision. The visual changes are not progressive, and loss of change of vision later inlife should not be related to albinism...

"some caucasians with OCA2 have red rather than blond hair and typicical ophthalmologic findings...

"individuals with other [than african american] populations (northern european, Asian) with the ocular features of albinism can have moderate-to-nearly-normal cutaneous pigmenation and only appears hypopigmented when compared to ther family members.

"When hair color is blond to yellow, the skin usually has little or no generalized pigmentation and the skin color is creamy white. It should be noted that skin color in OCA2 is not as white as that found in the OCA1A subtype."

OK, well thats alot of information anyway. Even before my son was genetically tested, I thought it sounded more like he has OCA2 than 1b. The race issue just threw things off. My Andrew has foveal hypoplasia (zero pigment in the fovea) and nystagmus and alternating strabismus (cross eyed). BUT my daughter is suspected by my sons PO and the geneticist to have it too. But she doesn't have nystagmus but has terrible transillumation. So it varies and sometimes is not so easily diagnosed. BTW--my son's diagnosis did note that the gene found in african americans was not affected but a different one was.

 Sorry...lots of info. I hope this helps. If your son doesn't sound like he has these symptoms, maybe it is the x-linked. Maybe look something up on x-linked if you think so.

We told at first my son had OCA 1a, we did genetic testing and the results didn't come back readable or were unclear enough to get a diagnosis.  So his diagnosis now is OCA 1b cuz of his hair color at birth (blonde) .He has nystagmus and foveal hypoplasia.  At times now, I think he has a blonde tint to his hair, but people and the dr. describe it as white.  His lashes and brows are white. It's all so confusing.  We were kind of upset when we agreed to do the testing and then, in the end, didn't get a real answer.  Not that it matters anyhow but it's just out of curiosity and we thought it'd help with the research of albinism.

Kelli

Wow!!! 

Thanks for writing all that, my gosh e-mail your address and I will send you a Thank you note!!!!

It is very confusing. My son is a big mix. He is Irish, English, German and Russian and 1/2 Jewish. I am the Irish and English one, very pale. My husband is dark with the Russian Jewish in him. I know, the amish have a certain type of albinism and most Amish are German. At least in PA anyway. This is crazy. I love the genetic info, but it is a wonder if they will ever have the correct answer. In the light my Andrew's hair looks pure white. But, he has yellow hair with white highlights if that makes sense. His lashes are yellow as well. He was born with very very very light light blond hair. It was not white. It has gotten much darker. He had light blue eyes as well that have gotten darker. He just turned 1 on the 23rd. Kelli, I think I told u before I think my Andrew has the same coloring as your son too.

As for Andrew's VI teacher, she has only taught children with OCA1 I guess. She has told me she has never had a kid who is as dark as Andrew. She has the OCA child a day before mine. I guess I would be confused to. But, I have told her about the different degrees. I keep getting upset. I don't know whether to be offended or question it myself. My husband told me to tell her he was diagnosed based on the foveal hypoplasia. He developed the nystagmus a month later. I am going to give her paperwork on the different types of albinism.

I think that Dr.King guy is infamous with the albinism. I know he is retired now, but I would love to see who replaced him. I know they see many people with albinism at that University. It is worth the plane ride I think. I know it does not matter what kind he has he will be treated the same. But, I still would like to know.  Well, the lil man is crying time for bed. Thanks again for writing all of that, I am going to copy it and send it to my e-mail and show my hubby! Have a great night everyone!!

Jill

Hi everyone.  A quick note on people of color and albinism.  I don't think they only carry OCA2.  I think people of color with albinism can be possibly carry OCA3, OCA4, etc.  I may be wrong, but my Zachary is half black and we think he has OCA1B.  I don't think people of color carry OCA1A. 

As far as ignorant VI teachers... Zach had a vision teacher come out every couple weeks then once a month for a while, but we didn't get much from her visits.  I know there are some very good VI teachers, but it just depends on whether you get lucky or not and what is available in your area.  His teacher had taught kids with albinism and had been a VI teacher in the shool system for a long time.  Her area of expertise was with older kids and school modifications, etc.  She didn't know what to do with babies, so really all we got from her was some reassurance and some ideas of what we will deal with when he goes into the school system.  Jill, your VI teacher probably hasn't seen another kid with albinism other than OCA1A.  Most people haven't.  I wouldn't be offended.  Just because she's a VI teacher doesn't make her an expert on albinism!  Just offer her the info you have and if you question the diagnosis, do the genetic testing.  Like everyone has said, it's not 100%, but you may get an answer if you need one.