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In genetics, albinism or Oculocutaneous albinism or ocular albinism refers to a group of rare inherited disorders that are present from the birth. Albinism affects the amount of pigment named melanin found in the skin, hair, and eyes, because of one of several possible genetic defects. People with albinism usually have little or no pigment in their eyes, skin, and hair, but the degree of pigment loss can be quite variable, from child to child. Many persons with this disorder have complete absence of pigment, their skin, hair, and eyes have no pigment from birth, and they do not develop freckles or moles at any time during their lifetime.

It’s not easy to diagnose exact type of albinism, but is a serious disease which could end up in death. Nowadays are two tests available to identify the type of albinism. One, a blood test has been developed to identify some genes responsible of albinism, defects in metabolism of tyrosine lead to failure in converting the amino acid in melanin. Two, during the fifth week of pregnancy, with the help of chorionic sampling, doctors can find some types of albinism, is due to a defect in the “P” gene, those with a slight pigmentation at birth. Unfortunately is not a treatment for this.

Yet, it’s no treatment to replace the melanin. The absence of melanin is producing the symptoms of albinism, but doctors can’t treat this. The people with albinism usually need glasses, are sensible to sunlight, presents crossed eyes. Other symptoms are patchy absence of pigment, or lighter than normal skin, rapid eye movement, photophobia, decreased visual acuity or even functional blindness, nystagmus ot twitching can be corrected with lenses or surgery, ambylopia, high susceptibility to skin cancer, white hair, bleeding disorders, lung disease, bowel disease, infections, hearing loss, nervous system disorders. The doctors can’t treat albinism, but can treat some of the effects, or can prevent this.

Patients with albinism should avoid excessive exposure to the sun, to wear proper glasses, take vitamins and other prescription gave them by the doctor, cover their skin as much as possible. Before conceive a baby, parents should make tests, to identify the albinism gene and to be sure that their child doesn’t inherit the albinism. Prevent is the best doctor in world. The most accurate type of test is the genetic one. The only treatment is to reduce the symptoms.

Optometrists recommend various optical aids, like simply glasses or bifocal glasses. Rehabilitation is a reliable treatment for eye, but it’s not a cure. There are only solutions to make their life better, but this is an illness with no cure it's a genetically illness. All people with albinism can’t be treated but can be prudent, and doctors can make their life easier.

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