/oculocutaneous albinism type 4

oculocutaneous albinism type 4

Rare Disease

MONDO:0011683

Also Known As

OCA4SLC45A2 oculocutaneous albinismoculocutaneous albinism caused by mutation in SLC45A2albinism, oculocutaneous, type 4albinism, oculocutaneous, type IVoculocutaneous albinism type IVoculocutaneous albinism, type 4

Definition

Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.