FAQ - albinism, oculocutaneous
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Have you heard of Oculocutaneous Albinism type 2?


What do you know about it?
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http://ghr.nlm.nih.gov/condition=oculocutaneousalbinism  (+ info)

Oculocutaneous albinism type 4 (OCA4)?


very rare outside of japan?
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ocular albinism is rare anywhere. I have seen it about 10 times in the last 5 yrs.  (+ info)

My daughter has Albinism, can she go in the sun at all?


My daughter is a month old and has Albinism. We haven't had Genetic testing yet, but from the research Ive done I'm pretty sure she has Oculocutaneous albinism (OCA1a). She has completely white hair. Its starting to get nice outside and I have other children. Can my daughter go outside at all as she grows. What precautions should I take? When is it too early to use sunscreen and what SPF should I be using?

Thanks

-Lorah
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What kind of skin problems do people with albinism have?


I'm doing some research for a project on genetics, and I was wondering what sort if specific problems do people with albinism have. I know they burn easily and are at risk for skin cancer, and obviously they are pale, but is there anything I'm missing?
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Well, I know it's not skin, but they also have bad vision. Don't know if it helps. http://www.albinism.org/  (+ info)

Will an eye transplant rid of Ocular Albinism?


I am 16 years old and have had ocular albinism since I was a few months old. Right now, without contacts, my eyes are sitting at 20/60. I am going to another eye appointment to get them tested with my contacts to see how much that improves my vision. I was just wondering if anyone knew where they are these days regarding eye transplants and the sucsess rates as I can't find reliable information online. I also wondered if because of my somewhat rare condition, could an eye transplant actually rid me of ocular albinism?

thanks !
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I agree with all the above.

What *may* help you more than regular contact lenses might be contacts with a completely opaque iris pattern, if this has not already been assessed.
This could could cut glare and unfocussed light that might be passing through your iris rather than the pupil.

Most "coloured contacts" do not have a competely opaque coloured portion and would not produce this effect.

The cosmetic effect with opaque lenses (such as are used to turn dark brown eyes light blue) is not quite as good as with the "added colour" ones, so this would be something of a trade-off, but I suggest that a trial would worth considering.  (+ info)

Does anyone have a picture of eyes with ocular albinism?


Im doing a research project about ocular albinism and i cant get a good close up picture of human eyes with the disease. I would greatly appreciate the help!
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not a close up eyes photo, but it shows normal eyes and albinism eyes: http://health.moonlightchest.com/albinism.asp  (+ info)

What are the chances of a person with albinism passing the disease to their children?


I have a lot of questions that need answering about albino people.
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Albinism is an inherited problem caused by a flaw in one or more of the genes that are responsible for directing the eyes and skin to make melanin (pigment). As a result, little or no pigment is made, and the child's skin, eyes and hair may be colorless.

In most types of albinism, a recessive trait, the child inherits flawed genes for making melanin from both parents. Because the task of making melanin is complex, there are many different types of albinism, involving a number of different genes.

It's also possible to inherit one normal gene and one albinism gene. In this case, the one normal gene provides enough information in its cellular blueprint to make some pigment, and the child will have normal skin and eye color. They "carry" one gene for albinism. About one in 70 people are albinism carriers, with one flawed gene but no symptoms; they have a 50% chance of passing the albinism gene to their child. However, if both parents are carriers with one flawed gene each, they have a 1 in 4 chance of passing on both copies of the flawed gene to the child, who will have albinism.

(There is also a type of ocular albinism that is carried on the X chromosome and occurs almost exclusively in males because they have only one X chromosome and, therefore, no other gene for the trait to override the flawed one.)http://medical-dictionary.thefreedictionary.com/Albino+person  (+ info)

Does anyone have any useful tips about Albinism?


Well, I have a report due March 5 and I need more facts on albinism, as that's my topic.
Please follow these certain rules on ow to line up so i know how many you put.
1)Put numbers in front.

2) Double space like so

3) No putting down Albinos-if you were albino and reading this, you wouldnt like that hmmm

Thank you and I hope you have good facts!
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What is the sequence of the mutation for the gene that causes albinism?


The main enzyme for making melanin is Tyrosinase, but I don't know the actual location of the gene or its mutation, besides it occurs on chromosome 11.
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Okay but which subtype??

oculocutaneous albinism 1 is the one that comes to mind due to your stating about the 11th chromosome and the absence of tyrosinase. The mutations happen by inactivity of the tyrosinase or in the production ...so there is a nullity in the mutation or there is the leaky mutation. That is 11q14-21

Now, if your talking about the subtype OCA1A, that's a whole 'nother ball of wax and it's simply nonsense sequential mutations. 11q24.

If I haven't answered your question, give me a personal buzz and I'll work you through it @[email protected]  (+ info)

Can a carrier of albinism (Aa) not show any traits of albinism, but be visually impaired?


So, if these two non-albinos had two children: one of which was albino, the other visually impaired, could the visually impaired child be a carrier? Is this why they are visually impaired?

I know that albinism has symptoms of bad eye sight...

Thank you!
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the visually impaired child could be a carrier. the impairment may or may not be a result of the albinism (trait).  (+ info)

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