Albinism
Biology Research Project
Introduction
Albinism
I chose to research this disorder because I know someone with this and I never knew it was a disease and it is interesting to me.
I chose to research this disorder because I know someone with this and I never knew it was a disease and it is interesting to me.
Definition of the disorder
Albinism is when the body has little to no pigment. This disorder affects the person's skin, hair, eye color and vision.
Description of the symptoms
The symptoms of this disorder may vary depending on type of albinism but generally, the skin is a pinkish color and hair is white. Some light eyed color could look red in some lighting. The eyes may be sensitive to light. A person may have blurry vision. It could be difficult for a person to have their eyes pointed in the same direction.
Causes of the disorder
This is a mutation caused by a gene not doing its job in the production of melanin. The amount of melanin determines the skin, hair and eye color.
How the disorder is inherited
A person must get two mutated genes in order to have albinism, usually one from each parent. It is a recessive inheritance.
How the disorder is treated
A person with this disorder can get surgery done to their eyes to reduce rapid uncontrollable movements of the eye, but it still wouldn't improve the vision. There is really no treatment. However, its suggested to get annual eye check ups and skin exams throughout their life.
How the order is diagnosed
Physical exams are done to see the description of the skin color and the doctor will compare the persons skin color with other family members.
How many and what type of people are likely to have the disorder
About 1 in 20,000 people are likely to have this disorder. This is an inherited disorder, so about any children can have this disorder if one of the parent has it or carries it in their gene.
Application of research
Some new information I have learned is that a person with albinism has really sensitive skin. I've always thought it was easily treated to get normal skin toned color.
What is Albinism?
Albinism: Caught Between Dark and Light
"Seeing" mommy for the first time!
Resources
Mayo Clinic- http://www.mayoclinic.org/diseases-conditions/albinism/basics/definition/con-20029935
Genetics Home Reference- http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism