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Albinism is a hereditary condition. It is usually inherited in a recessive pattern.

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Albinism is a genetic condition. Primarily, albinism affects the hair, eyes, skin, and vision. An estimated 1 in 70 people carry the genes associated with albinism.

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Albinism does not usually affect the lifespan. Persons with Albinism may have to limit their activities because they cannot tolerate sun exposure.

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If it’s rare disorder, how many people have been affected by it?

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If it’s rare disorder, how many people have been affected by it?

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Albinism is rare inherited disorders characterized by a reduction or complete lack of melanin pigment in the skin, hair and eyes. Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism.

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the more gender, and ethnic group affected?

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the more gender, and ethnic group affected?

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X-linked ocular albinism: This is caused by a gene mutation of the X chromosome. X-linked ocular albinism mainly affects males. Albinism affects people of all ethnic backgrounds.

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It's an estimate that 0.00005 percent people have albinism. Since it's an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism.

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There's no cure for albinism. However, treatment can relieve symptoms and prevent sun damage. Treatment may include: sunglasses to protect the eyes from the sun's ultraviolet (UV) rays.

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One albino and two normally pigmented fetuses were diagnosed. The prenatal molecular genetic test can be applied to families when at least one mutation is diagnosed in the albino patient.

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Genetic testing offers the most accurate way to diagnose albinism, health care provider may also diagnose the condition based on the appearance of your skin, hair, and eyes.

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Can they be tested to see if they are carriers?

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Can they be tested to see if they are carriers?

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Yes, Molecular Genetic (DNA) testing. Girls with albinism usually have OCA not OA and should be tested for the OCA genes. Sometimes doctors cannot tell if a child's hair and skin is affected by albinism just by looking at a child. Genetic testing may be able to tell which type of albinism the child has.
Also prenatal diagnosis of OCA I can be achieved by light and electron microscopic examination of melanogenesis in fetal scalp biopsies or by molecular genetic tests.

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What gene or chromosome number is affected by this disorder?

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What gene or chromosome number is affected by this disorder?

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The most common form is type 1, inherited by a gene mutation on the X chromosome. X-linked ocular albinism can be passed on by a mother who carries one mutated X gene to her son (X-linked recessive inheritance). Ocular albinism occurs almost exclusively in males and is much less common than OCA.

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Symptoms of disorder and Physical Characteristics:

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Symptoms of disorder and Physical Characteristics:

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People with albinism will have the following symptoms such as an absence of color in the hair, skin, or eyes. Strabismus (crossed eyes), photophobia (sensitivity to light), nystagmus (involuntary rapid eye movements), impaired vision or blindness, astigmatism.

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What other names are there for this disorder?

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What other names are there for this disorder?

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Other Names for This Condition includes albinism, oculocutaneous., and OCA.

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A defect in one of several genes that produce or distribute melanin causes albinism. The defect may result in the absence of melanin production, or a reduced amount of melanin production. The defective gene passed down from both parents to the child and leads to albinism. And is mainly caused by interruption in the functioning of the enzyme tyrosinase.