Oculocutaneous Albinism Type 1
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 1 has the least amount of pigment.


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:

Affected individuals usually have very pale skin, white to yellow hair, and light blue eyes.


Causes:

Albinism is an inherited condition. Oculocutaneous albinism type 1 results from an altered tyrosinase gene.