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Article

Current landscape of Oculocutaneous Albinism in Japan.

Pigment cell & melanoma research - 1 Mar 2021

Okamura Ken, Suzuki Tamio

Abstract excerpt

Oculocutaneous albinism (OCA), which is roughly divided into non-syndromic and syndromic OCA, is a group of autosomal recessive disorders caused by mutations in genes associated with pigmentation. Patients with OCA have hypopigmentation and ocular manifestations such as photophobia, amblyopia, and nystagmus. Hermansky-Pudlak syndrome (HPS), the most common syndromic OCA, is characterized by the additional...

Topics

Albinism, Oculocutaneous
Humans
Japan
Membrane Transport Proteins
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 32969595
DOI: 10.1111/pcmr.12927

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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