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Albinism Symptoms & Diagnosis

Symptoms

The symptoms of albinism depend on the specific type of albinism one has. Some types affect the skin, hair, and eyes. Other types affect only the eyes or only the skin.

Eye Symptom—Strabismus

Lazy eye
© 2009 Nucleus Medical Art, Inc.

Symptoms may include:

  • Eye problems, such as:
    • Strabismus or crossed or wandering eye
    • Poor vision (which usually cannot be fully corrected with glasses or contacts)
    • In some cases, functional blindness
    • Nystagmus or irregular, rapid eye movement.
    • Amblyopia or “lazy” eye.
    • Photophobia–sensitivity to bright lights or glare
  • Skin problems, including:
    • Little or no pigmentation (resulting in extremely light or white skin)
    • Patches of low pigmentation (resulting in patches of extremely light or white skin)
    • Extreme sensitivity to sunburn
    • Very high susceptibility to skin cancer
  • Hair problems, including:
    • White hair
    • Portions of the hair (often the forelock) being white
  • Certain rare types of albinism, such as Hermansky-Pudlak syndrome, can cause other symptoms, including:
    • Bleeding disorders
    • Lung disease
    • Bowel disease
    • Infections
    • Hearing loss
    • Nervous system disorders
    • The common forms, Type 1 and 2 albinism are not associated with these more serious symptoms.

Diagnosis

In many types of albinism, the disorder can be diagnosed by observation of major or total absence of pigmentation of the hair, skin, and eyes. If needed, chemical testing of hair can provide an easy confirmation of the diagnosis. Because most types of albinism affect the eyes, certain eye tests (including an electroretinogram) are used to help confirm the diagnosis. For some types of albinism, DNA genetic testing can also be used to confirm the diagnosis.

While albinism is always apparent at birth, it may be so mild that affected persons are unaware of their diagnosis unless abnormal eye movements or vision develop.

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