What is albinism? Well, albinism is a genetic disorder in which your body can’t produce or properly use melanin. Melanin is a pigment that your body produces and can be found in the melanocytes. Albinism is also a recessive trait, so you must inherit two recessive genes, one from each parent. Albinism is caused (most commonly) by a mutation in TYR gene. This gene produces an enzyme, Tyrosinase, that is responsible for the synthesis of Melanin in the body and is located in the Melanocytes.
About 18,000 out of the 318.9 million people in the U.S., of all different races, have some symptoms of Albinism. These symptoms can range from very minor to more extreme. Symptoms include:
White or pinkish …show more content…
OCA (Oculocutaneous) or Ocular Albinism. OCA is the type of Albinism that is responsible for the lack of Melanin in the eyes, skin, and hair. There are also four different types of OCA: OCA Type 1, OCA Type 2, OCA Type 3, and OCA Type 4. And Ocular Albinism primarily involves problems in the eyes, and the skin and hair are an almost normal color.
About 1 in 20,000 people worldwide are affected by Oculocutaneous Albinism, and this can occur in various races and geographical locations. There are different types of Oculocutaneous, as stated above, and these different types are most distinguishable by the specific hair, skin, and eye color that corresponded with the different types. OCA Type 1 is characterized by light white hair, very pale skin, and light colored irises. OCA Type two is characterized by creamy colored skin, light hair that could range from white to light brown, and typically the eyes are also light in color. OCA Type 2 is most common in African Americans, Native Americans, and Sub-Saharan Africans. OCA Type 1 and OCA Type 2 are the most common forms of Oculocutaneous Albinism. OCA Type 3 mainly effects darker skinned people and typically causes reddish-brown skin, ginger or red hair, and hazel or brown irises. OCA Type 4 is actually very similar to OCA Type 2 and is very hard to distinguish between the two. The gene SLC45A2 is responsible for the OCA Type 4 Albinism, and is the primary way to distinguish