OCA1
OCA1, or Oculocutaneous Albinism Type 1, is a genetic condition characterized by a lack of melanin production in the skin, hair, and eyes. This condition is caused by mutations in the TYR gene, which is essential for the production of the enzyme tyrosinase, crucial for melanin synthesis. Individuals with OCA1 often have very light skin and hair, and they may experience vision problems due to the lack of pigment in the eyes.
There are two subtypes of OCA1: OCA1A and OCA1B. OCA1A is the more severe form, resulting in little to no melanin production, while OCA1B allows for some melanin development, leading to slightly darker pigmentation. People with OCA1 are at a higher risk for sunburn and skin cancer due to their reduced skin protection from UV radiation.