Albinism is a rare, inherited condition that affects the development of melanin in the body. People with albinism have white or light-colored skin, hair, and eyes. The type of albinism that is most common is oculocutaneous albinism (OCA).
Types of Oculocutaneous Albinism
There are four major types of oculocutaneous albinism (OCA). They are:
OCA1: OCA1 is caused by a mutation in the TYR gene, which is responsible for the production of the protein tyrosinase. People with this type of albinism have the most severe form, with white or light-colored skin, hair, and eyes.
OCA2: OCA2 is caused by a mutation in the OCA2 gene, which is responsible for the production of the protein P-protein. People with this type of albinism have less severe skin, hair, and eye color changes than those with OCA1.
OCA3: OCA3 is caused by a mutation in the TYRP1 gene, which is responsible for the production of the protein tyrosinase-related protein 1. People with this type of albinism have milder skin and hair color changes than those with OCA1 and OCA2.
OCA4: OCA4 is caused by a mutation in the SLC45A2 gene, which is responsible for the production of the protein solute carrier family 45 member 2. People with this type of albinism have the least severe form, with no skin or hair color changes.
Treatment for Oculocutaneous Albinism
There is no cure for albinism, but there are treatments that can help manage the condition. These include the use of sunscreen and protective clothing to protect the skin from sun damage, vision aids to help with vision problems, and medications to treat skin problems. Other treatments may include surgery, gene therapy, and stem cell therapy.