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siblings with albinism

Last post 12-30-2012 12:43 AM by sbbatal. 5 replies.
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  • 12-02-2012 11:08 PM

    siblings with albinism

    hi there, i am interested in hearing about how similar/different your affected siblings with albinism are. i have a 2 yr old daughter who is VERY fair and has strabismus that manifested at about 19 months and excellent vision. when we took her for a second opinion, regarding glasses rx to fix her strabismus, the 2nd optho told us he thought she had OCA (first optho did not bring this up, so this was the first we heard of albinism). my husband had white hair when he was little, and i'm pretty fair, so we didn't think a thing of her coloring. her iris transilluminates and based on my second daughters diagnosis, i'm sure my older daugher has albinsim. now we have a second girl who is 5 months old and was recently diagnosed with albinism. she is darker than her sister, although still fair. she has strawberry blonde hair and blonde lashes and brows. she has very poor vision. i thought she was totally blind for a bit. she has nystagmus and can't see very far beyond what is directly in front of her, with the exception of lights. can there be different types of albinism in a familly, or is this just variable phenotypic expression of the same gene? any thoughts or experiences would be greatly appreciated. thank you.
    • Post Points: 35
  • 12-04-2012 10:58 PM In reply to

    • Roxanne
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    Re: siblings with albinism

    Hi Liz, Both our kids have albinism, our diagnosis story may sound a little similar. My husband and I have brown and hazel eyes and brown hair. My son was born, fair, blond/white haired and blue eyed vision seems fine but eventually we noticed he was photophobic. My daughter was born 3 1/2 years later, goldish blond with red tint, bit darker skin. Developed nystagmus about 4-5 weeks old. Eye doctor misdiagnosed her as having just nystagmus. switched doctors she is diagnosed with albinism. I had a strong assumption that my son also had it and he did. He had a blond fundus but only had pigment on his fovea which is why his vision is better! Our eye doctor told us it was a genotype/phenotype thing. My son can have slight nystagmus, is more photophobic which is described as painful, was left eye dominate and saw double when reading which was corrected with vision therapy, skin and hair is lighter and did not start getting a very light tan until he was 8, his vision is best corrected to 20/25. My daughter is a bit darker in skin and hair, always got a very slight tan, nystagmus is much worse, photophobia not as bad as brothers, poor depth perception, fovea and optic nerve affected, uses a cane as necessary, stronger prescription for glasses best corrected is usually about 20/40 or a bit higher but can fluctuate. Albinism can express itself differently, with varying visual problems and/or coloring. I do know of one family;the parents carry 2 types of albinism and the children's albinism is expressed quite differently. Both of my kids were diagnosed by them checking their retinas for pigment. We did have to find a eye doctor who was familiar with different forms of albinism for the initial diagnosis. Because you can have albinism and have good acuity or no nystagmus, or even brown hair and brown eyes. I believe my kids most likely have OCA1b or OCA2. (sorry my replies never stay formatted)
    • Post Points: 20
  • 12-05-2012 12:07 AM In reply to

    Re: siblings with albinism

    Thanks so much Roxanne! I was hoping you would respond, as I know you have 2 kiddos that are affected. Similar stories indeed! It's reassuring to me, b/c I can't wrap my head around my 2nd daughters poor vision with her darker coloring. It's very helpful to know that this in fact happens.
    • Post Points: 35
  • 12-05-2012 12:29 PM In reply to

    • Roxanne
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    • Joined on 11-09-2007
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    Re: siblings with albinism

    Your welcome, I used to tell my husband that it seems the little bit of pigment my son had went to his eye development and that our daughter's bit of pigment went to her hair and skin. Who knows but they are both awesome kids!
    • Post Points: 5
  • 12-05-2012 10:34 PM In reply to

    • Roxanne
    • Top 10 Contributor
    • Joined on 11-09-2007
    • Posts 475
    • Points 6,645

    Re: siblings with albinism

    It is interesting how it manifest itself especially within the same family! Your daughters are lovely!
    • Post Points: 5
  • 12-30-2012 12:43 AM In reply to

    • sbbatal
    • Top 500 Contributor
    • Joined on 09-15-2010
    • Posts 30
    • Points 405

    Re: siblings with albinism

    Hi Liz and Roxanne, Glad to know we're not alone. Both our boys have OCA also. Interestingly, our older son appears to be more affected by his low vision. Had our second child been first, I often wonder if we would've missed the diagnosis. Hugs to you both, kindred Mommies :) Warm regards, Shannon
    • Post Points: 5
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