oculocutaneous albinism การใช้

She has oculocutaneous albinism which causes her to have poor vision.
There are approximately nine different types of oculocutaneous albinism, which is mostly an autosomal recessive disorder.
Nitisinone has been shown to increase skin and eye pigmentation in mice, and has been suggested as a possible treatment for oculocutaneous albinism.
Mutations in the mouse Tyrp1 gene are associated with brown pelage and in the human TYRP1 gene with oculocutaneous albinism type 3 ( OCA3 ).
For example, the most common type, called oculocutaneous albinism type 2 ( OCA2 ), is especially frequent among people of black African descent.