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Article

Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.

Molecular vision - 1 Jan 2015

Khordadpoor-Deilamani Faravareh, Akbari Mohammad Taghi, Karimipoor Morteza, Javadi Gholamreza

Abstract excerpt

PURPOSE: Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented eyes (in patients with ocular albinism) or hair, skin, and eyes (in individuals with oculocutaneous albinism). It is associated with decreased visual acuity, nystagmus, strabismus, and photophobia. The tyrosinase gene is known to be involved in both oculocutaneous albinism and autosomal recessive ocular...

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Source

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Identifiers

PMID: 26167114
PMCID: PMC4499471

Genes

TYR

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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