Albinism

Statistics

  • One person in 17,000 has some type of albinism. Albinism affects people from all races.
  • The eyes are the focus of this disorder because the lack of pigment creates a unique set of problems for individuals who are suffering from it.
  • People with albinism are often sensitive to light and may have other eye issues which need to be addressed
  • For people with albinism, their vision is many times in the range of 20/200.
  • About 1 in 70 people are albinism carriers, with one defective gene but no symptoms.

Symptoms Cures Diagnostics Reason

  • The eyes are the focus of this disorder because the lack of pigment creates a unique set of problems for individuals who are suffering from it.
  • People with albinism are often sensitive to light and may have other eye issues which need to be addressed.
  • In the early 2000’s, a blood test has been developed that can identify carriers of the gene for some types of albinism.
  • The enzyme produced by the TYR gene, called tyrosinase, is required for the synthesis of melanin pigment. A mutation in the TYR gene causes the most common form of albinism. People with albinism have either a partial or complete lack of pigment, or coloring, in their eyes, skin or hair.
  • There is no cure for albinism but the eye and skin conditions can be treated
  • Genetic testing offers the most accurate way to diagnose albinism.
  • Your doctor may also diagnose the condition based on the appearance of your skin, hair, and eyes. An ophthalmologist may perform an electroretinogram, which is a test that can reveal vision problems related to albinism. A visual evoked potentials test can be very useful when the diagnosis is uncertain.
  • A person with albinism will have one of the following symptoms:
  1. Absence of color in the hair, skin, or iris of the eye
  2. Lighter than normal skin and hair
  3. Patchy, missing skin color
  • Albinism is caused by simple recessive trait