Albinism is diagnosed by examining the person's hair, skin, and eyes for signs of missing pigment. A physical exam is usually enough to diagnose albinism, but additional tests may be performed to confirm the diagnosis and rule out other conditions. These tests may include:
- Ophthalmological examination: An eye specialist (ophthalmologist) may be consulted to assess for vision problems and other eye conditions that are common in people with albinism.
- Electroretinogram (ERG): This test measures the electrical activity of the retina, which can help identify problems with the function of the photoreceptor cells.
- Genetic testing: This is the most definitive test for determining the type of albinism. It can identify the specific gene mutation responsible for the condition.
The type of testing used will depend on the individual's symptoms and the suspected type of albinism.
