Oculocutaneous Albinism is a disease that affects the skin and eyes. It causes skin discoloration and the loss of skin pigmentation. This means that the skin and hair are most commonly white or very light blonde. This form of albinism also affects the eyes, and can cause the person to be born with very poor eyesight.
There are many symptoms that can be used to diagnose this disease. Missing color in the hair, skin, or eyes is a sign, as well as patches of white or light colored skin. This is a result of the loss of pigments in the skin. With this form of albinism, vision problems are also a sign of the disease.
Once the symptoms are recognized, the most common way of diagnosing the disease is with genetic testing for defective genes. There is a specific gene that is mutated to cause this disease.
The gene that is affected to produce this disease is called TYR.
The protein that is formed by TYR is called tyrosinase. This is the protein that causes the disease.
This disease is an autosomal recessive pattern, meaning that it is a non-sex chromosome that is not the prominent gene.
Oculocutaneous Albinism has always existed as a genetic trait, but it was most likely first recorded by Sir Archibald Edward Garrod. He was the first person to begin researching and recording information about the disease.
Approximately one in seventy people have Oculocutaneous Albinism in the United States. Worldwide, the incidence rate is one in twenty thousand people.
Oculocutaneous Albinism occurs more often in Africa. The disease also appears in Native American and African American groups more frequently.
There is currently no cure for Oculocutaneous Albinism, but there are some preventative measures. Those with damage to their eyes can wear sunglasses to prevent further damage to their eyes from the sun. Also, since the skin lacks preventative measures against sun damage, staying inside is an option to keep from getting a sunburn.
There are no long-term complications with this disease, but limited outdoor activity can help with avoiding sunburns and eye damage.
A recent study was done at Brown University to find out what causes the melanin deficiency. Melanin is a protein that scientists have learned causes a form of albinism. This study revealed that melanin is necessary for the ion channel to function that produces and stores more melanin. Without this channel, the acidity of the melanin is too high and it cannot be produced. This discovery could lead to a treatment for albinism in the near future.
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