Oculocutaneous albinism type 1B

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Oculocutaneous albinism type 1B

Synonyms: OCA1B | Oculocutaneous albinism, Amish type | Platinum oculocutaneous albinism | Yellow oculocutaneous albinism

A form of oculocutaneous albinism type 1 (OCA1) characterized by skin and hair hypopigmentation nystagmus reduced iris and retinal pigment and misrouting of the optic nerves.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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Oculocutaneous albinism type 1B?

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Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

Clinical Trials

For a list of clinical trials in this disease area, please click here.