Alzheimer Disease, familial, type 5
What other names are there for this disorder?
Some other names for this disorder is Ocular Albinism, Oculocutaneous Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome, Griscelli Syndrome
What causes the disorder?
The causes or this disorder is 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 causes albinism.
What are the symptoms?
Some symptoms of this is absence of color in the hair, skin, or eyeslighter than normal coloring of the hair, skin, or eyes and patches of skin that have an absence of color
Are there prenatal tests for this disorder? If yes, what are they?
There are also two tests available that can identify two types of the condition. The hair bulb pigmentation test is used to identify carriers by incubating a piece of the person's hair in a solution of tyrosine, a substance in food which the body uses to make melanin.
How is it inherited?
Most children with albinism are born to parents with normal pigmentation. A person inherits one or more defective genes that cause them to be unable to produce the normal amounts of a pigment called melanin.
Are there any treatments or cures?
No there is no cure for albinism. The treatment for albinism can relieve symptoms and prevent sun damage
Albinism: Caught Between Dark and Light
Could this disorder have been prevented? If so, how?
Albinism is a genetic disorder where there is no possible way to prevent if from occurring other than avoiding all possible genetic combinations which will result in a recessive genotype.Genetic counseling should be considered for individuals with a family history of albinism.