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Albinism

Individuals with albinism have a decrease in the production of melanin or no melanin. People with albinism often have pale skin and white or light blonde hair. The actual color depends on how much melanin the body produces. Very pale skin that burns quickly in the sun and does not typically tan are normal aspect of albinism. 

Symptoms

Signs of albinism involve skin, hair, eye color, and vision. 

Skin and hair

Albinism results in white hair and light-colored skin compared with siblings. Skin pigmentation and hair color can vary from white to brown.

To exposure to the sun, some may develop:

  • Sunburn and the inability to tan
  • Freckles
  • Moles, with or without pigment
  • Large freckle-like spots (lentigines)

For some people, skin pigmentation never changes.

Vision

  • Poor eyesight – either long-sightedness or short-sightedness, and low vision
  • Astigmatism – where the cornea is not perfectly curved or abnormally shaped, causing blurred vision
  • Photophobia – eyes are sensitive to light
  • Squint – the eyes point in different directions 

Causes

Melanocyte cells are responsible for melanin production.

Mutation in one of these cells causes albinism. Different types of albinism can emerge, based mainly on which gene mutation caused the disorder. The mutation may result in no melanin or a significantly reduced amount.

Albinism

Types

How the genes are inherited and affected classifies the type of albinism.

  • Oculocutaneous albinism (OCA) is the common type of albinism, causing decreased pigment in the skin, hair, and eyes, leading to vision problems
  • Ocular albinism – specified to the eyes, provokes vision problems. Ocular albinism occurs almost exclusively in males
  • Albinism to rare hereditary syndromes 

Complications

Albinism can enclose skin, eye complications, and social and emotional challenges.

Eye complications

Difficulties with vision can affect learning, employment, and driving ability.

Skin complications

People with albinism possess skin sensitivity to sun exposure; sunburn is one of the most severe complications because it raises the risk of skin cancer and sun damage relating to the thickening of the skin.

Social and emotional challenges

Some with albinism may experience discrimination. Other people’s reactions to those with albinism can often hurt people with the condition.

Reviewed by – Dr. Priyanka, MBBS MD 
Page last reviewed: 04 October 2022