Oculocutaneous albinism type 1A
Synonyms: OCA1A | Tyrosinase-negative oculocutaneous albinism
A severe form of oculocutaneous albinism type 1 (OCA1) characterized by complete absence of melanin and manifesting as white hair and skin blue fully translucent irises nystagmus and misrouting of the optic nerves.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
Newly diagnosed with
Oculocutaneous albinism type 1A?
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