ArticleScientific reports2023
The causal mutation in ARR3 gene for high myopia and progressive color vision defect.
Article in Scientific reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 17 citations in OpenAlex.
- The human THRB thyroid hormone receptor gene and the puzzle of retinal disease phenotypes.Developmental biology · 2026Review
- Dual-Hit Myopia Mechanism Unveiled by Multi-Omics: Opn1mw Deficiency Primed the Retina for Exaggerated Response to Environmental Defocus.Investigative ophthalmology & visual science · 2026Article
- Mutation Screening ofGenes · 2026Article
- Multilevel Genetic and Functional Assessment of an ARR3 Frameshift Variant in Early-Onset High Myopia.International journal of genomics · 2026Article
- Single-Cell Transcriptomics onBiomedicines · 2025Article
- Clinical features of early-onset high myopia in Chinese children: attention to comorbidities.BMC ophthalmology · 2025Observational
- Bidirectional Phosphorylation Changes in Opsins Associated With Early Myopia and Hyperopia Signal Regulation by Phosphoproteomics.Investigative ophthalmology & visual science · 2025Article
- Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review.Clinical & experimental ophthalmology · 2025Review
- Self-reported myopia and age-related cataract: a two-sample Mendelian randomization study.Scientific reports · 2025Article
- Early-Onset Cone Photoreceptor Degeneration Is Associated With High Myopia inJournal of ophthalmology · 2025Article
- Proteomic signatures of retinal pigment epithelium-derived exosomes in myopic and non-myopic tree shrew eyes.Frontiers in medicine · 2025Article
- Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study.Orphanet journal of rare diseases · 2024Article
- Pupillary Light Reflex Reveals Melanopsin System Alteration in the Background of Myopia-26, the Female Limited Form of Early-Onset High Myopia.Investigative ophthalmology & visual science · 2024Article
- Whole-Exome Sequencing Among School-Aged Children With High Myopia.JAMA network open · 2023Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 female carriers. Protan/deutan color vision defects were also found in family members, affecting both genders. Using ten years of clinical follow-up data, we identified gradually worsening cone dysfunction/color vision as a key feature among affected individuals. We present a hypothesis that higher visual contrast due to the mosaic of mutated ARR3 expression in cones contributes to the development of myopia in female carriers.
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