Oculocutaneous albinism type 1 (OCA1) results from mutations in the tyrosinase gene, which lead to partial or complete loss of activity of the corresponding enzyme. A large number of mutations have ...

Albinism is a rare genetic condition that causes the lack of pigment in skin, hair, and eyes, sometimes accompanied by visual impairment. Different types of albinism are caused by various gene ...

Researchers at the National Eye Institute (NEI) have developed the first patient-derived stem cell model for studying eye conditions related to oculocutaneous albinism (OCA). The model's development ...

Researchers have developed the first patient-derived stem cell model for studying eye conditions related to oculocutaneous albinism (OCA). The model's development is described in the January issue of ...

The model’s development is described in the January issue of the journal Stem Cell Reports. NEI is part of the National Institutes of Health. “This ‘disease-in-a-dish’ system will help us understand ...