Oculocutaneous Albinism Subtypes

OCA1:

Involves the tyrosinase enzyme, which converts tyrosine (an amino acid) into melanin. Melanin is a chemical that colors our skin, eyes and hair.

It includes two sub-groups:

• OCA1a. People in this group have no pigment and no active tyrosinase. Learn more about OCA1a at: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203100
• OCA1b. Those with this type of albinism have some residual tyrosinase activity and so have some pigment. Although they have decreased pigmentation at birth, it may increase slightly throughout their lives. People in this group may even have the ability to sun tan. Learn more about OCA1b at: ttp://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606952.

OCA2:

Affects the p-protein, another protein involved in melanin production. It is much more common in persons of African descent. People in this group have some pigment, but typically do not tan. You can learn more about OCA2 at http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203200.

OCA4:

Clinically indistinguishable from OCA2. It involves the SLC45A2 gene, which produces another protein involved in melanin production. You can learn more about OCA4 at http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606574.