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Article

Clinical Manifestations and Genetic Spectrum of Oculocutaneous Albinism Type 2 in Chinese Patients.

Genes - 19 May 2026

Chen Chonglin, Li Jun, Wang Bingqi, Liu Junyi, Yu Xinping

Abstract excerpt

Objectives: Oculocutaneous albinism (OCA), a group of inherited disorders characterized by deficient melanin synthesis, leads to hypopigmentation of the skin, hair, and eyes. OCA type 2 (OCA2) is caused by mutations in OCA2. This study aimed to characterize the comprehensive clinical and genetic spectrum of OCA2, and to identify the key ocular determinants of visual acuity. Methods: We enrolled 90 probands...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42195040
DOI: 10.3390/genes17050583
PMCID: PMC13205322

Genes

OCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 15 Oct 2026.

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