There are seven recognized types of oculocutaneous albinism:
- OCA1 (Tyrosinase-Related Albinism): This type is caused by a genetic defect in the tyrosinase enzyme, which is responsible for producing melanin. People with OCA1 typically have very pale skin, white hair, and light-colored eyes.
- OCA2: This type is caused by a mutation in the P gene, which plays a role in melanin production. People with OCA2 may have a wider range of skin and hair colors, from very light to dark brown.
- OCA3: This type is characterized by a mutation in the TYRP1 gene, which is involved in melanin production. Individuals with OCA3 often have light skin and hair, but may have some pigmentation in their eyes.
- OCA4: This type is caused by a defect in the SLC45A2 gene, which is responsible for transporting melanin precursors into melanosomes (the organelles that produce melanin). OCA4 is associated with lighter skin and hair, but less severe than OCA1 or OCA2.
- OCA5: This type is caused by a mutation in the MATP gene, which is involved in melanin production. People with OCA5 often have a similar phenotype to those with OCA2.
- OCA6: This type is caused by a defect in the SLC24A5 gene, which plays a role in melanin production. OCA6 is associated with lighter skin and hair, but can be less severe than other types.
- OCA7: This type is caused by a mutation in the OCA2 gene, and it is characterized by a less severe form of albinism. People with OCA7 may have a range of skin and hair colors, but typically have some pigmentation in their eyes.
It's important to note that these types of albinism can be further divided into subtypes. DNA tests can help determine the precise type of albinism.
