OCA2-related oculocutaneous albinism type 2 is a condition that affects the color of the skin, hair, and eyes.
People with OCA2-related oculocutaneous albinism can’t make enough melanin, the dark pigment that gives color to your skin, hair, and eyes. Because of this, people with this disorder usually have lighter skin, hair, and eyes compared to their family members. Common traits of OCA2 include very light skin, yellow to light brown hair, and gray or tan eyes. People with OCA2 might have vision problems, like their eyes moving on their own (nystagmus) and being sensitive to light (photophobia). As they get older, some might develop more pigmentation or freckles. People with OCA2 are more likely to get sunburned and have a much higher risk of developing skin cancer. Disease management includes sunscreen and clothing to protect the individual from sunburns. Sensitivity to light is addressed by wearing dark glasses or a wide-brimmed hat.
This group of conditions is caused by pathogenic (disease-causing) variants in the OCA2 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance of having 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
