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Oculocutaneous albinism
Disease definition
A group of rare genetic hypopigmentation disorders characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6, OCA7 and OCA8.
Detailed information
Article for general public
Professionals
- Summary information
- Greek (2014, pdf)
- Polski (2013, pdf)
- Russian (2013, pdf)
- Suomi (2013, pdf)
- Review article
- English (2007)
- Clinical practice guidelines
- Français (2019)
- Guidance for genetic testing
- Français (2016, pdf)
- English (2014)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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