By: Abby LeCrone B4
What is Albinism?
Albinism, other wise known as Oculocutaneous albinism/ Ocular albinism is a defect in melanin production which is a natural substance that gives the color of your hair, skin, and iris of your eye. People who have albinism are normally really pale and have light colored eyes and white-ish hair.
Causes of this disorder
This disease is inherited as an autosomal recessive, through the family and is caused by a mutation in one of several genes. In some forms of albinism a person must have 2 copies of the mutated gene, one from each parent. In X-linked Ocular albinism there is a mutation on the X chromosome but only found in males. Pretty much any body has the chance in getting albinism but you are more likely to get it from a parent or grandparent.
Symptoms include, no color or light color in hair, skin, or eyes, crossed eyes, rapid eye movement, and problems in the eyes
Effects of the disorder
There are prenatal diagnosis and genetic counseling that people with albinism will go to, to see if their child will be albino like them. If a child is affected by this disorder the only time it should really see a doctor is to check their eye and/ or to test if they really have albinism. As children grow up with albinism they will need to see the eye doctor because albinism really effects their vision and eyes and so as they will grow up they will need assistance with that. When the children are older they are still able to have kids of their own and their kids might have a chance in being albino as well. The only way in close to preventing albinism is just to go to genetic counseling or take the prenatal diagnosis to see if your child will have it ahead of time.
About 1 in 17,000 people will have albinism
Outlook and treatments
With most forms of albinism there is no affect in the lifespan just less time spent outside and vision loss. Although there is no direct treatment to this disorder the closest thing is to relieve symptoms by avoiding direct sunlight and/or wearing sunscreen and also using UV protected sunglasses to protect the eyes. Since this disorder makes people lose the pigment in their skin, hair, and eyes, there is really no treatment to fix that problem any time soon.