Signs and tests
Genetic testing offers the most accurate way to diagnose albinism and its type. Such testing is helpful if you have a family history of albinism, and is also useful for certain populations known to get the disease.
Your doctor may also diagnose the condition based on the appearance of your skin, hair, and eyes. An ophthalmologist should perform a electroretinogram test, which can reveal vision problems related to albinism.
Treatment
The goal of treatment is to relieve symptoms. Treatment depends on the severity of the disorder.
Treatment involves protecting the skin and eyes from the sun:
- Reduce sunburn risk by avoiding the sun, using sunscreen, and covering up completely with clothing when exposed to the sun.
- Sunscreen should have a high sun protection factor (SPF).
- Sunglasses (UV protected) may relieve light sensitivity.
Support Groups
Expectations (prognosis)
Albinism does not usually affect lifespan. Hermansky-Pudlak syndrome can, however, shorten lifespan due to lung disease or bleeding problems.
People with albinism may be limited in their activities because they can't tolerate the sun.
Complications
- Decreased vision, blindness
- Skin cancer
Calling your health care provider
Call your health care provider if you have albinism or symptoms such as light sensitivity that cause discomfort. Also call if you notice any skin changes that might be an early sign of skin cancer.
Prevention
Because albinism is inherited, genetic counseling is important. Genetic counseling should be considered for people with a family history of albinism or hypopigmentation.
