Albinism

Albinism

Albinism is a rare, inherited disorder in which pigmentation (melanin) is completely or partially absent from the skin, hair and eyes. It is known affect all vertebrates.

Causes

In most cases, albinism is due to the inheritance of genetically recessive genes passed from both parents. It is possible for organisms to carry the genes for albinism without exhibiting any symptoms; thus, two non-albinistic parents may produce an albinistic child.

A rarer from of albinism, known as ocular albinism, involves the inheritance of the genes from one parent only.

Symptoms and diagnosis

The characteristic symptom of albinism in humans is a white or very pale appearance, due to the absence of black, brown or yellow colourations.

The condition is also typically associated with:

·         Vision defects;

·         Increased susceptibility of sunburn; and

·         Higher likelihood of skin cancers.

Genetic testing can confirm the presence and type of albinism in an individual.

Treatment

While albinism itself cannot be treated, its associated medical problems can be dealt with.

Treatment of eye defects largely comprises visual rehabilitation. This can involve the use of visual aids, specially-designed reading lights, large print materials, and even surgery.

Problems associated with vulnerability to UV radiation can be prevented with appropriate measures, including:

·         Minimising exposure to sunlight;

·         Wearing garments to protect the skin, such as thick clothing and hats; and

·         The application of sunscreen lotions.

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