Article

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

2022-11-28

Abstract excerpt

The ARR3 gene, also known as cone arrestin, belongs to the arrestin family and is expressed in cone cells, inactivating phosphorated-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 in female...

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Identifiers and source

Literature Corpus work: 1773c53e-ec79-582d-bdc8-a7d5861c5c43
DOI: 10.21203/rs.3.rs-2257382/v1

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