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Article

The causal mutation in ARR3 gene for high myopia and progressive color vision defect.

Scientific reports - 2 Jun 2023

Gu Lei, Cong Peikuan, Ning Qingyao, Jiang Bo, Wang Jianyong, Cui Hongguang

Abstract excerpt

The ARR3 gene, also known as cone arrestin, belongs to the arrestin family and is expressed in cone cells, inactivating phosphorylated-opsins and preventing cone signals. Variants of ARR3 reportedly cause X-linked dominant female-limited early-onset (age < 7 years old) high myopia (< - 6D). Here, we reveal a new mutation (c.228T>A, p.Tyr76*) in ARR3 gene that can cause early-onset high myopia (eoHM) limited to...

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Identifiers

PMID: 37268727
DOI: 10.1038/s41598-023-36141-0
PMCID: PMC10238396

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