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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...

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PMID: 32969595
DOI: 10.1111/pcmr.12927

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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