Albinism

What is albinism?

Albinism is a group of inherited disorders characterized by little to no production of the melanin pigment. The type and amount of this pigment that your body produces determine your hair, skin, and eye color. There are different types of albinism, depending on which mutated gene caused the disorder. Most people with albinism are extremely sensitive to sun exposure and are at increased risk of developing skin cancer.

What causes albinism?

Albinism is caused by mutations in one of several genes that prevent or inhibit melanin production, and most of these mutations are inherited in an autosomal recessive manner.

What are the symptoms of albinism?

The signs of albinism are usually, though not always, apparent in a person’s skin, hair, and eyes. In the skin, patients with albinism have pinkish skin, and may develop freckles, moles, or lentigines when exposed to the sun. Hair color in albinism patients can range from very white to brown, depending on the person’s stage in life and his/her ethnicity. All people with albinism experience vision problems, such has inystagmus, extreme nearsightedness or farsightedness, and photophobia, and may have very light blue to brown-colored eyes. In addition, an albino person’s irises may appear somewhat translucent or even appear red in some lighting.

How is albinism diagnosed?

A complete diagnosis for albinism would include the following:

• Physical exam
• Description of changes in pigmentation
• Thorough eye examine
• Family comparison

What treatment options are available for albinism?

Treatment for albinism is limited because it is a genetic disorder. However, treating the symptoms of albinism, especially eye problems, and monitoring the skin are important for the health of an albino patient. Avoiding sun exposure can also help prevent additional complications from the condition. Sometimes, surgery is prescribed in rare cases to help with some of the eye problems caused by albinism.

Where can I find out more about albinism?

• Mayo Clinic
• NIH
• Healthline