2026-10-13T00:06:24Z https://www.scidb.cn/oai

10.57760/sciencedb.06543 2022-11-21T10:28:41Z

2022-11-21 The causal mutation in ARR3 gene for high myopia and progressive color vision defect doi:10.57760/sciencedb.06543 en 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 carriers, and protan/deutan color vision defect affecting both genders. Using ten years of clinical follow-up data, we identified gradually worsen cone dysfunction/color vision as a key feature among affected individuals. We present a hypothesis of unbalanced color-vision signal output that had lowered blue color contribution from cone cells could potentially explain the etiology of this disease.  cone arrestin; early onset high myopia; ARR3 Lei Gu Peikuan Cong QIngyao Ning Bo Jiang Jianyong Wang Hongguang Cui PUBLIC https://creativecommons.org/publicdomain/zero/1.0/ dataset Science Data Bank