NOAH AOC

I took my oldest, Riley, to the opthalmologist this week.  Her vision has always been about 20/50-20/60 in both eyes.  She can now make out some of the stuff at 20/40 if she's using both eyes, although I think she just has parts of the test memorized.  He mentioned that she actually has albinoidism instead of being a "true" albino.  He said that if she had full-fledged albinism that her vision wouldn't be this good.  When I got home and did some research, I learned that albinoidism is when someone is lacking the pigment but they do not have hypoplastic foveas, nystagmus, or photophobia.  Riley has all of those things.  Has anyone else had this diagnosis?  I sometimes wish that the doctor would talk to you and then give you 20 minutes on a laptop and then let you come back in to ask questions.

Courtney

Your kids are so cute!

If I'm not mistaken (and others, please chime in here), albinoidism is an old diagnosis.  It's very likley that Riley has albinism, albeit a milder form.  Looking at their coloring, I would guess OCA1B or OCA2.  That's great that her vision is that good!

My son has very little pigment when they dialated his eye.  He said maybe he is a carrier or it didnt manifest itself all the way.  When I looked at OCA1b it said they can have a little pigment like up to 15 or 25% and they can have better vision.  Plus with certain types of albinism that increase in pigment their eyesight can improve, or so my doctors have said. My son is fairer and more photophobic with translumination until he started developing some pigment than my daughter who has nystagmus.  My eye doctor did admit he had never seen it before and really had no idea. (I actually appreciate when a doctor can admit that) When I told Dr. Hertle what the other doctor said, he looked at son for me.  I've read with the number of people with albinism and the chances of how many patients a doctor may have in their career if any with the condition would far from make most any authority not that they couldnt treat the condition.  I don't know if that helps.

I agree they always ask me if I have any questions and I tell them I don't know enough about it yet to know what to ask.  I usually come back and they are shocked at my terminology and ask me where I heard it.  LOL  I love the internet.  What did our parents do without it?!

Hi Courtney

When our little girl Grace was born 2 yrs ago - the diagnosis was unclear for a few days.  No one would say 100% if it was Albinism but that it was "likely" it was.  We went for genetic testing a few months after and a wonderful genetisist here in Dublin took us through all the information we should know about Albinism etc.  We went ahead with the genetic tests because I wanted to know for sure that it was just Albinism we were dealing with and nothing else.  He told us that he was suspecting the possibility of Grace having Albinoidism but as you pointed out this presents without any nystagmus.  The fact that our little girl had nystagmus at that stage almost ruled out Albinoidism.  The genetic testing came back with a positive confirmation for Albinism - OCA1B.  They were able to locate the mutated gene and so I could read up on that actual mutation which is listed in the publishes database of mutations for Albinism.  So if you really want a full diagnosis then maybe the genetic testing would give you that.

That was just our experience of it - hope it helps. Either way your childrean are lovely - little Riley looks super so if it is Albinism - she certainly appears to have alot of pigment in her skin and hair - so it must be a mild version of it!

I've never heard of Albinoidism. But the other posts make me really think she's got albinism too. My son has the nystagmus and was confirmed in a genetic test to have OCA2. My daughter, has the bad transillumination and whiter skin than my son. Her hair was whiter than his when she was born. She hasn't seen my sons PO yet, but will in April when my son goes back. The PO had a look at her at one of his appointments and said its likely that she has it too. The eye doctors she saw also said, its very likely that she has it, but had no sign of strabismus or nystagmus. They were not PO's to say the least. My son's PO and geneticist did say that the vision problems in albinism can range anywhere from better than my daughter to worse than my son. They acknoledge that there are kids with albinism who have better vision than my daughter. I wouldn't be suprised to find out that she has albinism too...both my daughter and yours.

Your kidss are beautiful!! I love those curls on your daughter and your son is so cute! He's gonna be a lady killer! They both look so happy. Good job mom!

I wanted to post in this thread to bring it back to the top.  I'm very interested in the diagnosis of albinoidism now because I've been diagnosed as having it.  At my daughters last PO appt he looked the eyes of my husband and I for transillumination.  DH was normal (at least his pigment is normal) but I have some small amounts of transillumination.  He said that is albinoidism and means I still have most pigment but have some gaps.  I have normal vision but don't tan and need to be careful in the sun.  

I haven't found much at the University of Google on this topic other than a basic definition and a link to this thread.  Just wondering if anyone out there knows something more about albinoidism.  

I'm really looking forward to Vegas when I can hijack some smart doctor and find out a little bit more about this.  I would appreciate any information anyone has.

 Kelly

Oh, and BTW I think your kids are so cute too.  Wow!  I really like the longer hair on your boy...darling.   

Hi,

Make a long story short, my husband was born with white/silver curls, turned light white/blonde at age three and at aged nine was just light blonde. He recalls getting glasses at about that age, after further investigation his acuity was about 20/60. He does sunburn, has pigmented freckles and moles- but does retain color (although we all know is sundamage regardless).  He never had a clue unitil our children were born, that he had at least some geneticist call "albinoidism"-"yellow albinism." He does have slight transillumination of the iris, and a very blonde fundus. I'm not sure of the diagnosis of OCA1B-without the presentation of nystagmus.

Well, he was born with silver, blonde and now in the winter his hair turns to a medium/darker brown hair. So, I think that perhaps the term may still be viable without the expression of nystagmus, may I also add that my husbands(although the spotty foveal area) vision can be corrected. So-hence the term albinoidism.

Thanks BabyPlatinum for your information.  I was born with jet black hair which turned blond and now is darker.  I have normal pigment, although light skin and lots of moles all over my body.  I started to wear glasses in college to correct near-sightedness.  Do you know if the gene for albinoidism is the same gene that we passed along to our kids to make albinism???  I'm guessing that it isn't but seems strange to have two mutated pigment genes...hmmm

Can't wait for Vegas!

Kelly

Hi Kelly,

With the exception of x-linked (female only carrier) occular albinism, yes my husband having albinoidism did contribute 1/2 of why my children have albinism. He most likely has one yellow gene (blonde hair) and one (oca1b gene)little pigment. So, hence told by the geneticist, he does not have nystagmus, however has albinoidism (spotty foveal area and gradual pigment).

So this leads to me, (although not genetically tested) , my foveal area is fully pigmented, I have twenty/twenty vision, I was very blonde as a child, so I am told I most likely carry a yellow gene/ but this does not lead to albinism. So, I'm told I must carry at least OCA1A or OCA1B in order for my children to present the condition of albinism (transillumination, nystagmus) etc.

So, the child takes one gene from each parent to make hair/skin/eye color.

It's interesting, many different genes are responsible for the lack of pigment in the eye/skin/hair.

often wonder although albinism affects all races, if the outcome actually differs when speaking of caucasion (yellow blonde) gene and a (Oca) gene.

Well, take care 

Hello

Bethany has OA and she has sandyblonde hair and gray eyes. Very little pigment. Bethany eyesight is 20/70.