Definition:
Oculocutaneous albinism is a condition resulting in the lack of pigmentation in the eyes, skin and hair. Other affected individuals may show an almost-normal level of pigmentation. Oculocutaneous albinism type 3 is the result of tyrosinase-related protein-1 gene mutation.
Diagnosis:
Affected individuals are diagnosed based on results from genetic testing.
Treatment:
Albinism cannot be cured but the condition can be improved through treatments that improve vision, and measures protecting the eyes from bright lights. Success of any treatement depends on the severity and type of the condition.
Symptoms and Signs:
Individuals affected with oculocutaneous albinism type 3 usually have red hair, reddish-brown skin, and blue or gray eyes.
Causes:
Albinism is an inherited condition. Oculocutaneous albinism type 3 results from the mutation of tyrosinase-related protein-1 gene.
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oculocutaneousalbinismtype3
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