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 ...

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 ...

A small pilot clinical study suggests that the drug nitisinone increases melanin production in some people with oculocutaneous albinism type 1B (OCA-1B), a rare genetic disease that causes pale skin ...

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 ...

A new range of books - printed on larger pages with customisable fonts - has been released by the Guide Dogs charity with the ...

A video of 8-month-old Louise McMorris seeing her mother for the first time has gone viral. Louise was born with a rare disease called Oculocutaneous Albinism, a group of medical conditions that ...

Leo Reppond was unable to see due to a rare condition. — -- A baby recently diagnosed with a rare condition is now seeing the world for the first time. The baby, Leopold Reppond, was recently ...