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 ...

Drug nitisinone was found to increase melanin production in some people with oculocutaneous albinism type 1B (OCA-1B), said study. Oculocutaneous albinism type 1B (OCA-1B) is a rare genetic ...

A small pilot clinical study at the National Eye Institute (NEI) suggests that the drug nitisinone increases melanin production in some people with oculocutaneous albinism type 1B (OCA-1B), a rare ...

Based on the specific gene that causes the albinism, there are many different classifications of oculocutaneous albinism, such as: OCA 1A – Completely absent tyrosinase activity. Patient has ...

OCA can be categorized into different types based on the specific gene involved. In Type 1 albinism there is a defect in the metabolism of an amino acid called tyrosine that leads to failure in ...

Albinism is a rare condition that causes the skin, hair, or eyes to have little or no color. It also leads to vision problems. Discover causes, treatments, and more.

Oculocutaneous albinism type 1 (OCA1) ... including number of patients seen with each mutation and clinical presentation as oculocutaneous albinism (OCA) 1A or B. Full size table ...

The prevalence of albinism differs depending on population and type. Approximately 1 in 70 individuals carry a mutated gene for OCA, with OCA2 being the most common genetic cause worldwide.

OCA type 4: This type is most common among East Asian populations. It presents similarly to type 2. X-linked ocular albinism: A genetic mutation in the X chromosome causes X-linked ocular albinism ...

People with OCA-1B, like those who participated in this study, have some tyrosinase, but it functions poorly. People with OCA-1A have no tyrosinase at all. Approximately one in 17,000 people ...