TYR-related oculocutaneous albinism type 1, or OCA1, is a genetic condition affecting skin color, hair, and eyes.
People with OCA1 can’t produce melanin, the dark pigment that gives color to your skin, hair, and eyes. Because of this, people with OCA1 usually have very light skin, white hair, and pink-colored eyes compared to their family members. Common traits of OCA1 include light skin, white hair, and pink eyes. People with OCA1 might also have eye problems, like their eyes moving on their own (nystagmus), being sensitive to light (photophobia), and having poor vision. As people get older, some might develop a bit more skin pigment. People with OCA1 are more likely to get sunburned and have a much higher risk of developing skin cancer. There is no cure for OCA1, but it can be managed. This includes using sunscreen and wearing protective clothing to avoid sunburn and reduce the risk of skin cancer. Sensitivity to light can be managed by wearing dark glasses or a wide-brimmed hat. Glasses or contact lenses can help improve vision. It’s important to have regular checkups with doctors who specialize in skin and eye conditions.
This group of conditions is caused by pathogenic (disease-causing) variants in the TYR gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Resources:
National Organization of Albinism and Hypopigmentation
Written August 2024
