Albinism- types, symptoms

In its most severe form of albinism, hair and skin remain white for life. People born with a less severe form of albinism have white hair and white skin at birth, but they darken with age. There is also the case of ocular albinism, when the skin and hair have normal pigmentation but the eyes are colorless.

This type of albinism is called ocular albinism type 1 (OA1).

Each human cell contains pairs of genes, one inherited from the mother and one father. Albinism is caused by a defect in one or more genes that are responsible for producing melanin. In most cases of albinism child inherits defective genes from both parents. It is possible to inherit one normal gene and one abnormal gene. In this case the normal gene provides enough information to create a certain amount of pigment, and the child will have normal coloration of the skin and eyes, but he will carry the gene that causes albinism.

Mainly there are 2 types of albinism : one caused by the defect in the gene that produces melanin and the other occurs because of a defect in the “P” gene. There are cases in which people present pink hair and skin and eye color. This is the most grave type of albinism, and it is called oculocutaneous albinism.

Also there is the so called localized albinism, that is determined by lack of color only in some parts of the body. This situation may be triggered by some diseases like : Tuberous sclerosis- areas on the body without skin color. If a patient has no color in one iris this problem may be caused by the Waardenburg syndrome. Another syndrome that may fit in the localized albinism’s situation is the Chediak-Higashi syndrome.

Modern science argues that is good to classify albinism by genotype also and not only by phenotype.

The most common symptoms of albinism are: light skin and hair color. People with albinism may have one eye color from blue-gray to brown. That’s why sometimes because of the light reflection they may seem to have red eyes.

Common conditions that come along with albinism are : myopia, hyperopia, astigmatism, strabismus, sensitivity to light.

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