Albinism – Gipopigmentatsiya – Oculocutaneous albinism – Ocular albinism

Description of albinism

Albinism refers to a group of rare inherited diseases, which are present from birth. Albinism affects the amount of pigment, which is contained in the skin, hair and eyes. People with albinism usually have little or no pigment in the eyes, skin and hair, but the degree of pigment loss can be quite variable. There are four types of albinism:

• Oculocutaneous albinism
  • Type 1 – полное отсутствие пигмента. The skin, hair and eyes of the pigment is missing from birth. Freckles and moles do not appear throughout life. This band is divided into several subtypes depending on the characteristics;
  • Type 2 – уменьшенное количество пигмента, but, possible appearance of freckles and moles. This form of albinism is more common among people of African descent;
    • Albinism Type 1 and Type 2 usually associated with visual problems, including nystagmus (abnormal jumping movements of the eyes) and decreased visual acuity, which often is not fully improved by glasses or contact lenses;
  • Type 3 – красновато-коричневая кожа, red hair and brown eyes, usually,common in black South Africans;
  • Type 4 – по аналогии с 2-го типа, mainly occurs in Japanese;
• X-связанный альбинизм – проблемы со зрением без изменения цвета кожи или волос;
• Синдром Hermansky-Pudlak – в дополнение к альбинизму, Patients also have lung problems, bowel, and disorders, associated with bleeding;
• Chediak-Higashi syndrome (Chediak-Higashi) – в дополнение к альбинизму, Patients also have problems with immune defects in white blood cells (leukocytes).

Causes of albinism

Albinism occurs as a result of changes in gene. In most cases, the gene is inherited from parents. The appearance of the gene may be an autosomal recessive and X-linked.

Autosomal recessive inheritance is the cause of most cases of albinism. It means, that both parents are carriers of one copy of the abnormal gene, but do not have symptoms or signs of albinism. Children become victims, only if they inherit the gene from each parent albinism. In this form of inheritance, each child has a one in four chance of ill albinism. Abnormal gene reduces (or eliminates), the body's ability to produce melanin pigment. There are several dozen different genetic subtypes of albinism. A person can have full or partial absence of melanin, which affects the color of the eye, hair and skin.

Chance of inheriting an X-linked gene is abnormal, It will vary depending on the sex of the child. Women have two X chromosomes, while males have one X and one Y. If only one parent is a carrier, the daughter will have one abnormal X chromosome and one normal. The daughter will be a carrier, but will not have signs or symptoms of albinism. Son, However, It has only one X-chromosome. If the X chromosome, the son who inherits, pathogens, the child will have albinism.

Risk factors

Альбинизм – наследственное заболевание. Therefore, the risk of albinism have the following groups:

• Children of parents, who have albinism;
• Children of parents, which have albinism, but are modified genes, which cause a violation;
• The presence of close relatives, with albinism.

Альбинизм – рекое заболевание. In Europe, about every 17,000th person has some form of albinism. Type 1 It is more common in white, and Type 2 in African Americans. Most children with albinism are born to parents with normal hair and skin color for their ethnic background.

The symptoms of albinism

The symptoms of albinism depend on the specific type of albinism. Some types of influence on the skin, hair and eye. Other types affect only the eyes or only to the skin.

Symptoms may include:

• Eye problems, such as:
  • Strabismus, or crossed, wandering eyes;
  • Poor eyesight (which usually can not be fully adjusted glasses or contact lenses);
  • In some cases, functional blindness;
  • Nystagmus or irregular, rapid eye movement;
  • Amblyopia, or "lazy" eye;
  • Photophobia, sensitivity to bright lights or glare;
• Skin problems, including:
  • Slabaya or pigmentation otsutstvuyushtaya (as a result the skin becomes too light or white);
  • Areas of low pigmentation (causing spots appear too light or white skin);
  • Extreme sensitivity to sunburn;
  • Very high susceptibility to skin cancer;
• Problems with hair, including:
  • The growth of white hair;
  • Growth of white pieces of hair (often bangs);
• Some rare types of albinism, such as Hermansky-Pudlak Syndrome , can cause other symptoms, including:
  • Bleeding;
  • Lung disease;
  • Bowel disease;
  • Infection;
  • Hearing loss;
  • Nervous system disorders;
  • Standard forms of albinism, Type 1 and 2 We are not associated with these more severe symptoms.

Diagnosing albinism

In many types of albinism disease can be diagnosed at little or no pigmentation of hair, Skin and Eyes. If necessary,, Chemical analysis of hair can provide confirmation of the diagnosis. Because most types of albinism affect the eyes, some eye tests (including electroretinogram) are used to confirm the diagnosis. For some types of albinism to confirm the diagnosis can also be used in genetic testing DNA.

While albinism congenital disorder, it may be so slight, that the victims may be unaware of their diagnosis, if you do not develop abnormal eye movements or vision impairment.

Treatment albinism

There is no cure albinism. Treatment is aimed at preventing or limiting symptoms. In some cases, you need special treatment for some symptoms.

Preventive treatment of albinism

Prophylactic treatment may include:

Skin Protection:

• The risk of sunburn and skin cancer can be reduced, avoiding the sun as much as possible;
• Наносить солнцезащитные кремы с высоким SPF – от 30 or better protection from UVA and UVB;
• Close skin clothing, when exposed to the sun;

Eye Protection:

• Wear sunglasses with UV protection, when exposed to the sun;
• Sunglasses (UV protection) may relieve photophobia.

Specific treatment of symptoms of albinism

Specific treatment of symptoms of albinism may include:

For eyes:

• Glasses, contact lens and / or optical devices, to help improve vision;
• Surgery, to correct certain eye problems, в том числе косоглазие или “ленивый” глаз;

For the skin:

• Surgery to treat and / or removal of skin cancer, in case of need.

Studies in mice with genetic forms of albinism suggest, that gene transfer may prevent visual disturbances. Whether these results may someday be applied in practice, people with albinism, It remains to be seen.

Forecast of development of albinism

• People with the most common forms of albinism Type 1, Type 2 and ocular albinism normal lifespan;
• There is an increased risk of skin cancer. Monitoring and periodic tests to minimize the risk. Since skin cancer may occur without characteristic pigmentation, timely analysis help ensure early diagnosis;
• If both spouses are not affected by albinism children, typically do not have this disorder;
• Albinism does not cause developmental delay or intellectual disability.

Prevention of albinism

There is no known way to prevent albinism. Genetic tests may show the likelihood of having a child with albinism.