NOAH AOC

After all my research, I think I found it, I stopped believing I had OA when there was no family history that SHOULD have been present.  They have only diagnosed 30 people with it, ever :P  Oh well, it all makes sense now ;)

http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&partid=1510 

 Has anyone actually done clinical testing to determine EXACTLY what type of albinism you have?  I was/am considering doing this, but just found out it can cost up to $2,500!  Don't know if I care to find out that bad...what happened to helping further along research :P

It costs $2700 for OCA1A & 1B and if you have OCA 2 done with the same sample (after testing determines OCA1A & 1B are not present) it is $700 in VA.

We had it done on our son about 3 wks ago and are awaiting the results.  It won't infuence any medical or optica interventions, but our insurance covers it and we are all very curious to find out what type it is.  We cannot trace Albinism back on either side of our families.  (all though I know this is true of many people).  We should get our results back sometime within the next week.

Hi all,

While I am kind of curious as to exactly what type of albinism I have, I am quite certain it is OCA1, probably 1a, I have never been tested and most likely never will be.  I base my assumptions on the fact that I was diagnosed at birth in 1959 by a family Dr., no specialist!  And I mean at birth, not the next day!  My hair has not darken at all, other than the slight yellowing I get at times from pollutants or the green tinge from chlorine, both of which can be solved with that lovely purple shampoo that is maketed for old ladies!!  To my knowledge, I have also gained no skin pigmentation, and my eyes are bluish purple.

The point of my post, though, is more of a chuckle on my part, and in no way is meant to be offensive and demeaning to anyone.  Here goes!

The common refrain one hears when they or their child is diagnosed with albinism is that no one in their family has it, or they can't trace it on either side, etc.  Well, I happen to be an avid genealogist and family historian, even doing some 'free' work for a couple of others besides myself.  Besides collecting names, dates, and locations, I have also managed to get copies of photographs of many ancestors and relatives, dating back to some folks who were born 200 years ago!  I currently have 11,311 persons in my database!  While I cannot claim there are no other persons with albinism in there besides myself and my younger brother, I have yet to find one!!  There may be one somewhere but then again, the recessive gene may have entered the family gene pools recently on both of my parents' sides and gotten together to create me!  And with the way genetics works, it could exit the family genepool in a matter of generations, also.  While my three daughters are definitley carriers, my two grandsons (so far) have only a 50% chance of being carriers, as they do not have albinism.  And it seems my brother is a confirmed bachelor! 

I just find the 'tracing it back in my family' comments personally amusing because tracing families back is one of the things I do best in life!

Good luck with your genetic testing.  As a person with a degree in biology, I am always interested in the scientific aspect of these things.

Joni

Family history does not need to be present. Both of my sons have X linked Ocular Albinism, meaning I passed the gene to them. I was told by a genetic counselor that it can be a new gene mutation. I do not have any of the classic signs of a carrier - the mottled pigment in my eyes. There is no one else in my family that has OA either. Now neither of my sisters have boys, so who knows if they are carriers or not. Even if they did, their boys would only have a 50/50 chance of having OA.

Just wanted to share, that because you don't know of anyone in your family that has albinism or Ocular albinism, doesn't really mean anything. Especially with OCA -you have to have two people that share the same gene in order to pass that on.