ArticleOrphanet journal of rare diseases2021
Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 29 citations in OpenAlex.
- Mutation Screening ofGenes · 2026Article
- Article
- Multilevel Genetic and Functional Assessment of an ARR3 Frameshift Variant in Early-Onset High Myopia.International journal of genomics · 2026Article
- Lifestyle and environmental risk factors for myopia in children: Evidence from a large-scale cross-sectional study in Shandong, China.PloS one · 2026Article
- IMI-Myopia Genetics Report.Investigative ophthalmology & visual science · 2025Review
- Advances in the study of ARR3 in myopia.Frontiers in cell and developmental biology · 2025Review
- 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
- Prevalence and associated factors of myopia among adolescents aged 12-15 in Shandong Province, China: a cross-sectional study.Scientific reports · 2024Observational
- 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
- Novel Splicing Variants in the ARR3 Gene Cause the Female-Limited Early-Onset High Myopia.Investigative ophthalmology & visual science · 2024Article
- Genetic background of high myopia in children.PloS one · 2024Article
- Genetic and clinical landscape ofThe British journal of ophthalmology · 2023Article
- The causal mutation in ARR3 gene for high myopia and progressive color vision defect.Scientific reports · 2023Article
- Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China.Molecular genetics and genomics : MGG · 2023Article
- Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism.Investigative ophthalmology & visual science · 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
- Whole exome sequencing of known eye genes reveals genetic causes for high myopia.Human molecular genetics · 2022Observational
- Early onset X-linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene.Human mutation · 2022Article
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10 authors at 4 institutions in 1 country.
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Abstract
backgroundFemale-limited early-onset high myopia, also called Myopia-26 is a rare monogenic disorder characterized by severe short sightedness starting in early childhood and progressing to blindness potentially by the middle ages. Despite the X-linked locus of the mutated ARR3 gene, the disease paradoxically affects females only, with males being asymptomatic carriers. Previously, this disease has only been observed in Asian families and has not gone through detailed investigation concerning collateral symptoms or pathogenesis.
resultsWe found a large Hungarian family displaying female-limited early-onset high myopia. Whole exome sequencing of two individuals identified a novel nonsense mutation (c.214C>T, p.Arg72*) in the ARR3 gene. We carried out basic ophthalmological testing for 18 family members, as well as detailed ophthalmological examination (intraocular pressure, axial length, fundus appearance, optical coherence tomography, visual field- testing) as well as colour vision- and electrophysiology tests (standard and multifocal electroretinography, pattern electroretinography and visual evoked potentials) for eight individuals. Ophthalmological examinations did not reveal any signs of cone dystrophy as opposed to animal models. Electrophysiology and colour vision tests similarly did not evidence a general cone system alteration, rather a central macular dysfunction affecting both the inner and outer (postreceptoral and receptoral) retinal structures in all patients with ARR3 mutation.
conclusionsThis is the first description of a Caucasian family displaying Myopia-26. We present two hypotheses that could potentially explain the pathomechanism of this disease.
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