Albinism
Alternative Names
Oculocutaneous albinism; Ocular albinism; Hermansky-Pudlak syndrome
Symptoms
A person with albinism will have one of the following symptoms:
- Absence of coloring from the hair, skin, or iris of the eye
- Lighter-than-normal skin and hair
- Patchy, missing skin color
Many forms of albinism are associated with the following symptoms:
- Crossed eyes (strabismus)
- Light sensitivity (photophobia)
- Rapid eye movements (nystagmus)
- Vision problems, even functional blindness
Exams 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.
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