Genetical Information:
There are four types of albinism: OCA 1, OCA 2, OCA 3, and Ocular Albinism. OCA type 1 is caused by a gene on chromosome pair 11 and is inherited as an autosomal recessive trait. This means the individual must inherit two defective genes for the disorder to occur when they are born. OCA type 2 is caused by a gene on chromosome pair 15 and is also requires two defective genes. OCA type 3 is caused by a gene on chromosome pair 9 and is also inherited as an autosomal recessive trait. Ocular albinism is caused by a gene on the X (female) chromosome. It is also a recessive disorder, meaning that a male inheriting one defective X chromosome will have ocular albinism, but a female would have to inherit two defective X chromosomes to have the disorder.
Symptoms:
In all 4 types of Albinism, all people who have this genetic disease can’t produce certain enzymes that produce melanin, a pigment formed in the skin, hair, and/or eyes. Each type of albinism has different levels of the loss of pigment. OCA type 1 usually causes complete absence of pigment in the skin, hair, and eyes, but some individuals may have some degree of pigmentation. OCA type 1 also causes sensitivity to light (photophobia), reduced visual acuity, and involuntary eye twitching (nystagmus). OCA type 2 causes a minimal to moderate degree of pigmentation in the skin, hair, and eyes. It also causes eye problems similar to OCA type 1.
OCA type 3 has been difficult to identify based on appearance alone. It has been most noticeable when a very light-skinned child is born to dark-skinned parents. OCA type 3 also causes eye problems, but not as severe as those of OCA type 1.
Ocular albinism affects only the eyes, causing minimal pigmentation in them. The iris may appear translucent. Reduced visual acuity, nystagmus, and difficulty controlling eye movements may occur.
Research:
Some research is being done, but not a large amount. Most of it is on finding the cure for albinism, since there is no known cure for it. Scientists already know much about the disease and its effects. So far, scientists have not been able to find a treatment for it either. The only
