ArticleHuman mutation2022
Early onset X-linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene.
Article in Human mutation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 27 citations in OpenAlex.
- Identification of a novel nonsense variant in ARR3 in a family with early-onset high myopia.Genes & genomics · 2026Article
- Article
- Multilevel Genetic and Functional Assessment of an ARR3 Frameshift Variant in Early-Onset High Myopia.International journal of genomics · 2026Article
- Cellular Biological Basis and Novel Breakthroughs in the Pathogenesis of Myopia - A Narrative Review.International journal of general medicine · 2026Review
- Review
- IMI-Myopia Genetics Report.Investigative ophthalmology & visual science · 2025Review
- Perspectives on Genetic and Environmental Factors in Myopia, Its Prediction, and the Future Direction of Research.Investigative ophthalmology & visual science · 2025Review
- Advances in the study of ARR3 in myopia.Frontiers in cell and developmental biology · 2025Review
- 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
- Trio-based whole-exome sequencing reveals mutations in early-onset high myopia.BMJ open ophthalmology · 2024Article
- Novel Splicing Variants in the ARR3 Gene Cause the Female-Limited Early-Onset High Myopia.Investigative ophthalmology & visual science · 2024Article
- Comparative analysis of corneal parameters in simple myopic anisometropia using Scheimpflug technology.Frontiers in bioengineering and biotechnology · 2024Article
- Genetic background of high myopia in children.PloS one · 2024Article
- Whole-Exome Sequencing Among School-Aged Children With High Myopia.JAMA network open · 2023Article
- Genetic and clinical landscape ofThe British journal of ophthalmology · 2023Article
- IMI-Management and Investigation of High Myopia in Infants and Young Children.Investigative ophthalmology & visual science · 2023Article
- A view from the clinic - Perspectives from Dutch patients and professionals on high myopia care.Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) · 2023Article
- The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia.Investigative ophthalmology & visual science · 2023Article
- Identification of a Novel Frameshift Variant ofJournal of clinical medicine · 2023Article
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This study describes the clinical spectrum and genetic background of high myopia caused by mutations in the ARR3 gene. We performed an observational case series of three multigenerational families with high myopia (SER≤-6D), from the departments of Clinical Genetics and Ophthalmology of a tertiary Dutch hospital. Whole-exome sequencing (WES) with a vision-related gene panel was performed, followed by a full open exome sequencing. We identified three Caucasian families with high myopia caused by three different pathogenic variants in the ARR3 gene (c.214C>T, p.Arg72*; c.767+1G>A; p.?; c.848delG, p.(Gly283fs)). Myopia was characterized by a high severity (<-8D), an early onset (<6 years), progressive nature, and a moderate to bad atropine treatment response. Remarkably, a female limited inheritance pattern was present in all three families accordant with previous reports. The frequency of a pathogenic variant in the ARR3 gene in our diagnostic WES cohort was 5%. To conclude, we identified three families with early onset, therapy-resistant, high myopia with a female-limited inheritance pattern, caused by a mutation in the ARR3 gene. The singular mode of inheritance might be explained by metabolic interference due to X-inactivation. Identification of this type of high myopia will improve prompt myopia treatment, monitoring, and genetic counseling.
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