Oculocutaneous Albinism, Type IV (SLC45A2)

Oculocutaneous albinism type IV is caused by pathogenic variants in the gene SLC45A2. The disease is characterized by the presence of light-colored skin and hair (albinism), reduced vision, nystagmus, and photophobia. Long-term sun exposure greatly increases the risk of skin damage and skin cancer. Individuals with type oculocutaneious albinism type IV tend to have skin that is creamy white in color and hair may be light yellow or light brown in color. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):