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Albinism

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Author - Dr. Sharmila Samaranayake (MBBS, DCH)

Author 2 - Dr. Niranjan Ariyasinghe thru Dr. Gayani

Institution - Health Education Bureau – Sri Lanka

Introduction

Albinism is a genetic disorder where the gene is inherited. Alba means white. There is a defect in melanin production. Melanin is the pigment which gives us colour. If we have more melanin we are darker in colour. There are 2 types of albinism.

  • Oculo - cutaneous albinism -  skin, hair and eyes are affected
  • Ocular albinism - Only the eyes are affected

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Causative Agents

Albinism is inherited and it can run in families. It is more common in children born from consanguineous marriages (blood relatives being married)

Pathogenesis / Action in the body

The pigment melanin is reduced or absent. Melanin is usually present in skin, eyes, hair and brain. It protects us from sun’s harmful rays. So when melanin is absent our skin, hair and eyes can get damaged.

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Symptoms and signs

The skin has a milky white colour. There can be freckles here and there. The hair colour will range from very white to brown. The eye colour can be light blue, grey or brown. There are many visual problems. Patient can have reduced vision and squints. Sometimes the eyes will rapidly move back and forth (nystagmus). He will find it difficult to go out in the sun as their eyes are very sensitive to light.

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Complications

  • Most people with albinism are sensitive to sun exposure and are at increased risk of developing skin cancer.
  • People with albinism usually look very different from members of their own families or ethnic groups and, therefore, may either feel like outsiders or be treated like outsiders. This can be very distressing to them.
  • Visual problems

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Management

Since it is a genetic disorder there is no cure or any medicines.

It is important to get the child’s eyes checked by an ophthalmologist and if there are any visual problems the child will have to wear specs.

Apply sun block creams when going out, use an umbrella. Avoid too much sun exposure. Wear protective clothing. Wear UV protected sun glasses to protect eyes from harmful sun rays.

Get the eyes and skin examinations done regularly to find out any early complications.

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Prevention and promotion

Avoid consanguineous marriages.

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Still pictures

Albinism The skin is white in colour. The hair and eye brows are white too.
Albinism The eyes are very light in colour. Note that the eye brows are white too.
Albinism The boy with albinism is wearing specs as he has visual problems.

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References

Patient UK articles on albinism, Clinical medicine by Kumar and Clark.

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Last update on : 2011-03-23 11:45:33