Oculocutaneous Albinism Type 1B
Oculocutaneous Albinism Type 1B (OCA1B) is a genetic condition characterized by a lack of melanin, the pigment responsible for coloring the skin, hair, and eyes. Individuals with OCA1B typically have light skin and hair, along with vision problems due to underdeveloped retinal pigment. This condition is caused by mutations in the TYR gene, which plays a crucial role in melanin production.
People with OCA1B may experience increased sensitivity to sunlight, leading to a higher risk of skin damage and skin cancer. Vision issues can include reduced visual acuity and nystagmus, which is an involuntary eye movement. Management of OCA1B often involves protective measures against sun exposure and regular eye examinations.