Oculocutaneous Albinism Type 2
Oculocutaneous Albinism Type 2 (OCA2) is a genetic condition that affects the pigmentation of the skin, hair, and eyes. It is caused by mutations in the OCA2 gene, which plays a crucial role in the production of melanin, the pigment responsible for color in these tissues. Individuals with OCA2 typically have lighter skin and hair, and their eyes may appear blue or light-colored due to reduced melanin.
People with OCA2 may experience vision problems, such as reduced visual acuity and sensitivity to light, due to the lack of pigment in the retina. This condition is inherited in an autosomal recessive manner, meaning that both parents must carry the mutated gene for a child to be affected. Early diagnosis and management can help address the associated challenges.