Albinism is caused by a genetic defect that affects the production of melanin. Melanin is a pigment that gives color to our skin, hair, and eyes. People with albinism have little or no melanin, resulting in light skin, hair, and eyes.
The specific defect causing albinism involves mutations or changes in certain genes that control melanin production. These genes include:
- TYR: Mutations in this gene cause type 1 oculocutaneous albinism.
- OCA2: Variants in this gene lead to type 2 oculocutaneous albinism.
- TYRP1: Mutations in this gene are responsible for type 3 oculocutaneous albinism.
- SLC45A2: Variants in this gene cause type 4 oculocutaneous albinism.
Albinism is a rare genetic condition that is inherited from parents. This means that it is passed down through families.
