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Definition of Albinism

Albinism is a genetic disorder when there is little or no production of pigment melanin in a person's hair, skin and eyes. The amount of melanin produced in a person's body determines the color of skin, hair and eyes. Persons affected by albinism have sensitive skin. When exposed to sun, they have a higher risk of getting affected by skin cancer.

Though albinism cannot be cured completely, there are several steps that can be taken to protect the skin and maximize the vision.

Causes of Albinism

The albinism disorder is caused due to mutation in one out of several genes. These genes play a key role in producing a protein which help in formation of melanin. This melanin is produced by melanocytes cells, which are found in a person's skin and eyes.

There are several types of albinism caused due to mutated genes disorder such as:

Oculocutaneous Albinism

It is caused by mutation in one out of four genes. Oculocutaneous albinism is further divided into three sub categories: OCA type 1, OCA type 2 and OCA type 3.

X-linked Ocular Albinism

It is caused by the mutation in X chromosome of a person and it mainly occurs in males. A person suffering from ocular albinism will face vision problems but their skin and eyes are normal.

Hermansky-Pudlak Syndrome

It is caused by mutation in one out of eight genes. A person suffering from Hermansky-Pudlak syndrome will face similar problems like a person with oculocutaneous albinism, as well as have bleeding disorder and lung and bowel problems.

Chediak-Higashi Syndrome

It is caused by mutation in LYST genes. A person having Chediak-Higashi syndrome have great risk of infections and defect in white blood cells.

Symptoms of Albinism

The symptoms of albinism are usually present in a person's skin, hair and eye color.

Skin

Albinism is mostly recognized by white hair and pinkish skin and the pigmentation of this skin color ranges from white to brown. In some cases, the pigmentation of skin doesn't change while in others, melanin production starts increasing. When exposed to sun, the person may get moles, freckles, tan and spots.

Hair

Hair color ranges from white to brown; the color of hair may darken in early adulthood.

Eye and Vision

The color of eyes ranges from light blue to brown and may possibly change color with age. The symptoms of albinism related to eyes include: photophobia, blurred vision, back and forth movement of eyes, nearsightedness and farsightedness.

Diagnosis of Albinism

An ophthalmologist or the eye specialist will diagnose albinism by conducting tests which include:

  • Physical exam
  • Description of the changes in the pigmentation
  • Exam of eyes
  • Assessment of nystagmus, strabismus, photophobia
  • Comparison of the person's pigmentation with other family members

Treatment of Albinism

Albinism being a genetic disorder has limited treatment. However, it is necessary to take proper care of the eyes and skin. A person suffering from albinism is advised to wear prescription lenses and also needs to undertake an annual eye test and the screening of skin to prevent the risk of skin cancer.

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