Diagnosis of Albinism

The most accurate way to diagnose albinism is by genetic testing. If you fall within the high-risk group of people prone to albinism or have a family history of the condition, genetic testing is highly recommended.

Other tests for albinism include a physical check up and an electroretinogram test. A simple look at your physical appearance will give your doctor an idea about the severity of the lack of pigmentation. In cases where albinism also affects the eyes, an electroretinogram should be performed by an ophthalmologist to determine the extent of problems with vision. If the diagnosis regarding albinism and visual problems is still uncertain, an additional visual evoked potentials test is useful.

Chemical testing of hair also helps confirm the presence of albinism.

Other tests for the diagnosis of albinism include:

  • The Hairbulb Pigmentation Test: In this test, a person’s hair is incubated in a tyrosine solution. Tyrosine is a non-essential amino acid that the body uses to make melanin. If the hair turns dark, it indicates normal melanin synthesis whereas if the hair stays light, it means there is no melanin made by the hair. This is a popular test to identify carriers of the condition before the physical symptoms are evident.
  • The Tyrosinase Test: A more accurate version of the hairbulb pigmentation test, this measures the rate at which tyrosine is converted into DOPA (another chemical) and then into pigment by the hair.
  • There is a new type of blood test that has recently been developed that can help identify carriers of certain types of genes that may lead to albinism.
  • During pregnancy, a mother can opt for amniocentesis or chorionic villus sampling to indicate some forms of albinism in the developing fetus.