Oculocutaneous albinism; Ocular albinism; Hermansky-Pudlak syndrome
A person with albinism will have one of the following symptoms:
Many forms of albinism are associated with the following symptoms:
Genetic testing offers the most accurate way to diagnose albinism. Such testing is helpful if you have a family history of albinism. It is also useful for certain groups of people who are 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. A visual evoked potentials test can be very useful when the diagnosis is uncertain.
Summer GS. Albinism: classification, clinical characteristics, and recent findings. Optom Vis Sci. 2009;86:659-662.
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