Types of albinism

Albinism has two main types: ocular albinism (OA), which primarily affects the eyes, and oculocutaneous albinism (OCA), which affects the skin, hair, and eyes.

Doctors further subdivide OCA into a number of subgroups depending on the specific genes it affects.

These subdivisions includeTrusted Source:

●OCA type 1: Individuals tend to have milky skin, white hair, and blue eyes. With age, some individuals’ skin and hair may darken.
●OCA type 2: Less severe than type 1, this occurs most often in sub-Saharan Africans, African Americans, and some Native American communities.
●OCA type 3: Vision problems are usually milder in type 3 than in other types. This type mostly affects Black South Africans.
●OCA type 4: This type is most common among East Asian populations. It presents similarly to type 2.
●X-linked ocular albinism: A genetic mutation in the X chromosome causes X-linked ocular albinism, which mainly affects males. Vision problems are present, but eye, hair, and skin color are generally within the normal range.
●Hermansky-Pudlak syndrome: This rare variant is most commonTrusted Source in Puerto Rico. The symptoms are similar to those of oculocutaneous albinism, but bowel, heart, kidney, and lung diseases or bleeding disorders, such as hemophilia, are more likely.
●Chediak-Higashi syndrome: This is a very rare form of albinism resulting from a mutation in the CHS1 gene. The symptoms may resemble those of oculocutaneous albinism, but a person’s hair can appear silvery, and their skin can look slightly gray. The white blood cells can have defects, making the person more prone to infections.

Comments