Human Albinism

Albinism is part of a group of genetic disorders. It is characterized by low or no production of pigment called melanin. The type and amount of melanin produced by the body determines the color of skin, hair and eyes.

People with albinism are sensitive to sunlight and show an increased risk of developing skin cancer.

Melanin plays an important role in the development of the optic nerve. For this reason, all types of albinism can lead to eye impairment, eighter developmental or functional. Although there is no treatment for albinism, those suffering from this disorder can take steps to improve eyesight and avoid prolonged exposure to sunlight. Albinism does not limit intellectual development, although people with albinism often feel socially isolated and can be discriminated.

If your child has hair or skin lightening agent from birth – as happens often in infants with albinism – your doctor will make an ophthalmology exam and will closely watch any change in the pigment.

For some babies, the first sign coincides with nystagmus events, especially in situations where the type of albinism have little effect on pigmentation.

If your baby regularly moves eyes horizontally (nystagmus) discuss with your doctor.

Ask your doctor if you develop frequent nosebleeds, chronic infections, bruising. These signs may indicate the presence of Hermansky-Pudlak syndromes or Chediak-Higashi.

A diagnosis of albinism requires a complete physical examination that will include a description of changes of pigmentation, deep history and examination of eye pigmentation. This would be done by using a device to analyze the retina and to determine if there are signs of abnormal development. Also, you may need electroretinogram to measure brain waves produced when the light shines in the eye, which may indicate the presence of optic nerve abnormalities.

Because albinism is a genetic disorder, treatment options are limited. Most likely, a child with the disease will need glasses prescription, which will help to improve eyesight and he will need to consult an ophthalmologist annually.

The doctor will do annual assessment of baby’s skin to detect any damage that could lead to skin cancer. People that suffer from Hermansky-Pudlak syndrome and Chediak-Higashi, require periodic professional care to prevent complications.

You can help your child learn self help practice that should continue into adulthood:

– Applying sunscreen with sun protection factor (SPF) of at least 30, which protects against UVA and UVB light rays;

– Avoid sun exposure at noon at high altitudes and on sunny days;

– Wear protective clothing, including long-sleeved shirts, or pants, hats etc

– Protect your eyes by wearing sunglasses that block UV rays.

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