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Is it possible to have a blonde fundus without having albinism?

Last post 03-21-2003 12:00 AM by Babyplatnum. 4 replies.
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  • 03-18-2003 12:00 AM

    • Leah
    • Top 200 Contributor
    • Joined on 08-17-2002
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    Is it possible to have a blonde fundus without having albinism?

    Thanks to all helping me understand albinism. Again, we're not sure if our daughter has OA, OCA2, or simply has no form of albinism at all.

    We will meet with a doctor in the next month to determine hopefully by a blood test what is exactly going on.

    Several questions to throw out there tonight.

    First, if the genetics doctor comes back and says our girl has OCA2, would that mean that both my husband and I are carriers? Or can OCA2 spontaneously happen with a gene mutation and the parents have zero carrier possibilities?

    Secondly, it is possible to be going down this road of does our child have albinism, and then find out that she just has a blonde fundus without albinism? I can't find anything on the internet that talks about having a lack of pigmentation in the eye (blonde fundus/reduced retinal pigment, etc.)without associating that phrase with albinism. For instance, it's it possible to have reduced retinal pigment, and normal routing of the optic nerve... and that would NOT be albinism, because as I understand it, to actually have albinism you'd have to have a misroute of the optic nerve (that VEP tests for that).

    Any idea where I could learn more about pigmentation defects of the eye where albinism is not present?

    Wink
    • Post Points: 65
  • 03-19-2003 12:00 AM In reply to

    • Keev73
    • Not Ranked
    • Joined on 03-18-2003
    • Posts 16
    • Points 215

    Re: Is it possible to have a blonde fundus without having albinism?

    Hi Leah,

    I am not sure if my response will help you but I read on the Internet that some babies can have a blonde fundus and not have Albinism. It can be just from the fact that they are fair skinned and have blonde hair. I don't know how reliable this info is but thought you might want to know. Take care.

    Kiva



    Originally posted by Leah:
    Thanks to all helping me understand albinism. Again, we're not sure if our daughter has OA, OCA2, or simply has no form of albinism at all.

    We will meet with a doctor in the next month to determine hopefully by a blood test what is exactly going on.

    Several questions to throw out there tonight.

    First, if the genetics doctor comes back and says our girl has OCA2, would that mean that both my husband and I are carriers? Or can OCA2 spontaneously happen with a gene mutation and the parents have zero carrier possibilities?

    Secondly, it is possible to be going down this road of does our child have albinism, and then find out that she just has a blonde fundus without albinism? I can't find anything on the internet that talks about having a lack of pigmentation in the eye (blonde fundus/reduced retinal pigment, etc.)without associating that phrase with albinism. For instance, it's it possible to have reduced retinal pigment, and normal routing of the optic nerve... and that would NOT be albinism, because as I understand it, to actually have albinism you'd have to have a misroute of the optic nerve (that VEP tests for that).

    Any idea where I could learn more about pigmentation defects of the eye where albinism is not present?

    Wink
    • Post Points: 5
  • 03-19-2003 12:00 AM In reply to

    Re: Is it possible to have a blonde fundus without having albinism?

    Leah, My son has albinism (we're not sure what type apparently his is very rare) but anyways he is also normally pigmented for our family-his eyes are green his hair is dirty blonde and his eye lashes and eyebrows are fully pignented. He also tans quite nicely even though we always have him slathered in sunscreen. The only reason we noticed a problem with him was because of his nystagmus. Our original eye doctor said that it is possible to have a nystagmus and not have albinism. The VEP test is the test that confirmed my sons diagnosis of albinism because his type of albinism is rare the blood tests gave us no information at all. I hope this helps I know how frustrsting not nowing can be but it sounds like your child is doing really well regardless. And there is no history of this in either my family or my husbands and as far as I know it does't happen spontaneously-because it is a recessive gene it can be in your family for generations and it never comes up. Susan
    • Post Points: 5
  • 03-20-2003 12:00 AM In reply to

    • Jeannine
    • Top 10 Contributor
    • Joined on 02-20-2002
    • Massachusetts
    • Posts 743
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    Re: Is it possible to have a blonde fundus without having albinism?

    A couple thoughts. . .

    First, a genetics doctor can only confirm what type of albinism your child has by doing a blood test and looking to see which gene is effected. A visual exam of the child will not indicate this - according to a presentation that I went to by one of Dr. King's research associates (Dr. King heads up the Albinism Research Center at the University of Minnesota), you cannot tell what type of albinism it is by just looking at the child (or looking at the physical features).

    So, on to my next point - there is no lab that currently tests for every type of albinism. There are some that are looking for OA (see the Vision of Children link on this web site). However, there is no lab that tests for everything (there are upwards of 12 different genes that have been identified as causing albinism). So, the chances of getting a firm diagnosis is pretty slim (i.e. you may be able to go to these labs and rule out specific types, but you may not be able to get a definite diagnosis either).

    My understanding of OCA is that it is a genetically recessive trait. I have heard some suggestions that it can occur spontaneously, but as far as I know, that has not been confirmed (or at least I haven't seen Dr. King's group come out to say that it happens). So, there's a very good chance that if your child has OCA, you and the father are carriers of the recessive genes. My husband and I are both normally pigmented, and we have no history in the family of OCA - however, he was adopted so we don't know about his birth family. In any event based on the biology of genetics, it is not unusual to have a situation where there is no recorded history of albinism in a family.

    On your second question, I'm not sure whether a "blond" fundus can be present and not have albinism. If there is no pigment, or reduced pigment, it is albinism (albinism being the lack of or a reduction in the pigment).

    Hope this helps. .
    • Post Points: 5
  • 03-21-2003 12:00 AM In reply to

    Fundus

    Blonde fundus does not mean a person has albinism- it actually (from what I'm told)- is somewhat lack of pigment - although (thick) sometimes seen in a blonde hair person. True diagnosis of albinism(oca 1, oca 2, or just oa) is an almost complete/a/o complete lack of pigment in the foveal area (central point of the eye). This is usually developed by six-eight months of age.
    The area around the fovea can develop pigment- and alot of pigment (dark blue/sometimes brown eyes) however, it's the pit of the central area- that's important for vision. If lacking-nystagmus will occur.
    The way that may (not always determine) wihch type-is a genetic test (inconcusive many times). The optic chiasm is normally misrouted- however an eye exam will tell you Albinism/or not.

    I understand your CONFUSION- If your child is still an infant- there are a few different genetic conditions that I have read about that can cause the same features of ALBINISM. One being Angelman's syndrome- in which sometimes (white hair and nystagmus are noted- for some reason chromosone 15 is deleted)-from what I remember. Unlike a child with albinism (derma/optic features) mental delays are progressive., and are obvious after usually 6 months of age. Something to be concerned with if you see this in your child. A geneticist can determine this by head measurement/body measurement etc.-usually a baby with this goes home after birth undiagnosed as well.
    Good luck with your search- If you need a Lab that does testing-my husband and I used one (specifically researching ALBINISM)- I did not have them take our daughter's blood- just ours.
    Results=does not change chances of having another child with the condition/ and somewhat unfurfilling. However, I hope it will help determine a way to help.
    Good luck with your search-
    • Post Points: 5
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