Cause of Albinism

Albinism is a hereditary disease (inherited), which is due to the absence of melanin, the pigment that gives color to hair and eyes and skin. The type and amount of melanin produced by organism determines skin, hair and eyes color.

Most albinism people are sensitive to sunlight and have an increased risk of skin cancer.

Melanin also plays an important role in developing optic nerves. Thus, albinism is associated with disturbances in eye development and function.

Albinism is characterized by complete or partial absence of melanin in skin, hair and eyes. In the case of albinism, the number of melanocytes (cells that produce melanin) of the epidermis and hair follicles is normal. Instead, there is a defect related to how the body uses the amino acid tyrosine. Normally, tyrosine is converted to melanin, but in case of albinism this conversion is blocked or reduced.

Oculo-cutaneous albinism:

Oculo-cutaneous albinism is caused by a mutation in one of four genes involved in causing albinism. These mutations lead to eye disorders and skin and hair lack of color.

Hermansky-Pudlak syndrome.:

This syndrome is a rare disease whith similar signs and symptoms as albinism, associated with oculo-cutaneous albinism, which can cause lung disorders (interstitial lung disease), intestinal disease (colitis) and coagulation disorders .

Chediak-Higashi syndrome:

Chediak-Higashi syndrome is a rare form of albinism caused by a mutation in a gene of the cormozom 1. Anomaly syndrome is characterized by leukocyte (white blood cells), the abolition of their phagocytic activity, causing a marked sensitiviness to infection. It is associated with defects of skin, eyes and hair pigmentation.

This disorder is caused by a defect in melanin metabolism and is characterized by the absence of this pigment that protects skin from solar radiation. Melanin is produced by melanocytes, which are found in the skin and eyes. A mutation may result in lack of melanin production or a low level of melanin.

In most cases of albinism, to manifest the disease, a person must inherit two copies of a mutated gene – one from each parent. If the person has only one copy, the disease will not develop.

Impact of mutation on eye development

Whatever the genetic mutation is present, sight deficiency is a feature common to all cases of albinism. This is caused by faulty development of nerve pathways from the eye to the normal development of brain and retina.

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