Ocular Phenotypes and Novel SLC45A2 Variants in Patients with Oculocutaneous Albinism Type 4.

doi:10.3390/genes17080963

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Article

Ocular Phenotypes and Novel SLC45A2 Variants in Patients with Oculocutaneous Albinism Type 4.

Genes - 17 Aug 2026

Chen Chonglin, Wang Bingqi, Zheng Ye, Liu Junyi, Yu Xinping

Abstract excerpt

OBJECTIVES: SLC45A2-related oculocutaneous albinism type 4 (OCA4) is a genetically defined subtype of albinism; however, its ocular phenotype remains incompletely characterized. This study aimed to describe the systemic, ophthalmic, and genetic features of patients with genetically confirmed SLC45A2-related OCA4. METHODS: Ninety patients with clinically diagnosed albinism were enrolled and underwent genetic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42650157
DOI: 10.3390/genes17080963
PMCID: PMC13511901

Genes

SLC45A2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.