Albinism, oculocutaneous, yellow mutant E70.3

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Amish albinism

Definition
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Type 1 albinism (tyrosinase negative OCA due to mutation in the tyrosinase gene (TYR). At birth white, later yellow-reddish hair and skin colour. During childhood, a spoke-wheel-like pigmentation of the iris appears. Otherwise identical with tyrosinase-positive oculocutaneous albinism.

Diagnosis
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S.u. Albinism, tyrosinase-positive oculocutaneous.

Therapy
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Incoming links (2)

Albinism oculocutaneous tyrosinase-negative; Amish albinism;

Outgoing links (2)

Albinism oculocutaneous tyrosinase-positive; Albinism (overview);

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer

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Definition
Diagnosis
Therapy
References
Authors