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GTR Home > Conditions/Phenotypes > Ocular albinism, type I

Ocular albinism, type I

Synonyms
Nettleship-Falls type ocular albinism; Ocular Albinism, X-Linked; Ocular albinism type 1; Ocular albinism, type I, Nettleship-Falls type; X-linked recessive ocular albinism
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, albinotic fundus, macular hypoplasia, and normally pigmented skin and hair. Carrier females usually have punctate iris translucency and a mottled pattern of fundus pigmentation. In contrast to Caucasian patients, black or Japanese patients with OA1 often have brown irides with little or no translucency and varying degrees of fundus hypopigmentation, the so-called 'nonalbinotic fundus' (summary by Xiao and Zhang, 2009). [from OMIM]

Available tests

38 tests are in the database for this condition.

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Clinical tests (38 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: NYS6, OA1, GPR143
    Summary: G protein-coupled receptor 143

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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