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Doctor insights on: Current Research On Albinism

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What is albinism?

What is albinism?

Albinism: Albinos inherit a deficiency in a gene which makes pigment. Pigment is protective against sun and other environmental influences it is usually a recessive and therefore the abnormal gene is in both parents with a 25% of albino offspring (higher if the parent is albino themselves). Multiple body systems can be affected including vision. Sun sensitivity is extreme. Read more

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Dr. James Dukelow
63 Doctors shared insights

Albinism (Definition)

A group of inherited disorders characterized by little ...Read more


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What is albinism?

What is albinism?

Congenital condition: This is a congenital condition characterized by the complete or partial absence of pigment in the skin, eyes and hair. Read more

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What causes albinism?

What causes albinism?

No: Oculocutaneous albinism is a genetic defect of the enzyme in our body that produces melanin. There are no cures or treatments for this genetic condition. Read more

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Can albinism be cured?

Can albinism be cured?

No: Albinism is a genetic pigmentary disorder. The genetic defect that affects enzymes that are involving in pigment (melanin) production or distributive pathways. With this condition, it is absolutely imperative to use sunscreen/block, sunglasses, and sun protective clothing to prevent uv induced damages. Read more

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What is the cause of albinism?

What is the cause of albinism?

Albinism: Many things. Google it and look at Wikipedia on genetics of albinism. Read more

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How can albinism be diagnosed?

How can albinism be diagnosed?

Exam and testing: Albinism is a genetic disease of the enzyme that produces melanin. Genetic testing is available for the defective genes and a "hair bulb assay"-testing the hair follicles for the defective enzyme is also available. Read more

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Could albinism be prenatally detected?

Yes for most types: Several varieties of albinism exist, and prenatal diagnosis is available for most of them. Read more

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 are there different types of albinism?

 are there different types of albinism?

Yes: There are two principle types, the first which affects only the eyes, and the other which affects the eyes, hair and skin. Read more

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Is it possible to grow out of albinism?

Is it possible to grow out of albinism?

No: Albinism is a genetic disease of the enzyme that produces melanin. There are not treatments or cures for this condition to date, . Read more

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How can I tell if im a carrier for albinism?

How can I tell if im a carrier for albinism?

Pedigree analysis: Albinism is a recessive trait, meaning that it entails the loss of a function and you must have two copies of the gene to see it. The way to know if you are a carrier is to examine your ancestors and see if there is a history of albinism in a direct ancestor. There are also genetic tests available. A genetic counselor can help if this is a major concern for you. Read more

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What is albinism and how does one deal with it?

What is albinism and how does one deal with it?

Defect in melanin: Is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of tyrosinase, a copper-containing enzyme involved in the production of melanin. Albinism results from inheritance of recessive gene alleles and is known to affect all vertebrates, including humans. The treatment is symtomatic especialy for the eye problems. Read more

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What is the definition or description of: Albinism?

What is the definition or description of: Albinism?

Albinism: Albinism = inherited disorder in which there is minimal or no production of melanin. This leads to lack of pigment / color of skin, hair/ eyes. Read more

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 will having albinism affect my child’s development?

 will having albinism affect my child’s development?

What Type?: The best way to get your questions answered is to ask your child's pediatrician for a referral to a geneticist and a pediatric ophthalmologist at lucile packard children's hospital, where your child will receive excellent care. Read more

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 what are the effects of albinism on my child’s vision?

 what are the effects of albinism on my child’s vision?

Albino vision: Albinism has moderate and severe forms. Refractive needs are common. The eyes as a protective measure commonly develop a dancing motion (nystagmus) which lowers the central acuity. Light sensitivity is of course the rule. There are advances in this know to your ophthalmologist who you should consult when the condition is first detected. Read more

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Is it possible for a person with albinism to get freckles?

Is it possible for a person with albinism to get freckles?

No: Oculocutaneous albinism is a genetic defect of the enzyme in our body that produces melanin-this determines skin color. There are different types of severity based on the gene involved and how much the gene is "damaged." the more damage, the less melanin. It is not an all or none effect. Patients can still get freckles, small collections of skin cells with more melanin than surrounding skin. Read more

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 are there other medical problems associated with albinism?

 are there other medical problems associated with albinism?

Vision, skin cancer: Albinism is caused by a defect in melanin synthesis, causing decreased pigment in skin and hair. The main medical problems associated with albinism are vision problems and increased risk of skin cancer. Read more

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Why do individuals affected by albinism have trouble seeing?

Why do individuals affected by albinism have trouble seeing?

Vision in albinism: Albinism has moderate and severe forms. Refractive needs are common. The eyes as a protective measure commonly develop a dancing motion (nystagmus) which lowers the central acuity. Light sensitivity is of course the rule. There are advances in this know to your ophthalmologist who you should consult when the condition is first detected. Read more

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What are the characteristics of an individual with albinism?

What are the characteristics of an individual with albinism?

Congenital condition: This is a congenital condition characterized by the complete or partial absence of pigment in the skin, eyes and hair. Some people have a complete lack of pigmentation, while other only have their eyes affected. Read more

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