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GTR Home > Conditions/Phenotypes > Oculocutaneous albinism type 8

Oculocutaneous albinism type 8

Synonyms
OCULOCUTANEOUS ALBINISM, TYPE VIII

Summary

Oculocutaneous albinism type VIII (OCA8) is characterized by mild hair and skin hypopigmentation, associated with ocular features including nystagmus, reduced visual acuity, iris transillumination, and hypopigmentation of the retina (Pennamen et al., 2021). [from OMIM]

Available tests

4 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: OCA8, TRP-2, TYRP2, DCT
    Summary: dopachrome tautomerase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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