ArticleInvestigative ophthalmology & visual science2013
Variations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy.
Article in Investigative ophthalmology & visual science, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 66 citations in OpenAlex.
- Education influences the association between genetic variants and refractive error: a meta-analysis of five Singapore studies.Human molecular genetics · 2014Pooled it
- Control of myopia using diffusion optics spectacle lenses: 12-month results of a randomised controlled, efficacy and safety study (CYPRESS).The British journal of ophthalmology · 2023Trial
- Cone Opsins and Inherited Retinal Disease.Cells · 2026Review
- Identification of a novel nonsense variant in ARR3 in a family with early-onset high myopia.Genes & genomics · 2026Article
- Article
- Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review.Clinical & experimental ophthalmology · 2025Review
- Correlation of contrast sensitivity at low spatial frequencies with myopic shift in Chinese children.BMC ophthalmology · 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
- The causal mutation in ARR3 gene for high myopia and progressive color vision defect.Scientific reports · 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
- Applications of Genomics and Transcriptomics in Precision Medicine for Myopia Control or Prevention.Biomolecules · 2023Review
- Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.NPJ genomic medicine · 2022Article
- NovelInternational journal of molecular sciences · 2022Article
- Insight fromGenes · 2022Article
- Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes.Molecular vision · 2022Article
- Intermixing theGenes · 2021Review
- Chimeric human opsins as optogenetic light sensitisers.The Journal of experimental biology · 2021Article
- IMI Risk Factors for Myopia.Investigative ophthalmology & visual science · 2021Review
Corrections and comments
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Authors and funding
8 authors at 7 institutions in 3 countries.
Funding
Abstract
purposeTo determine the role of variant L opsin haplotypes in seven families with Bornholm Eye Disease (BED), a cone dysfunction syndrome with dichromacy and myopia.
methodsAnalysis of the opsin genes within the L/M opsin array at Xq28 included cloning and sequencing of an exon 3-5 gene fragment, long range PCR to establish gene order, and quantitative PCR to establish gene copy number. In vitro expression of normal and variant opsins was performed to examine cellular trafficking and spectral sensitivity of pigments.
resultsAll except one of the BED families possessed L opsin genes that contained a rare exon 3 haplotype. The exception was a family with the deleterious Cys203Arg substitution. Two rare exon 3 haplotypes were found and, where determined, these variant opsin genes were in the first position in the array. In vitro expression in transfected cultured neuronal cells showed that the variant opsins formed functional pigments, which trafficked to the cell membranes. The variant opsins were, however, less stable than wild type.
conclusionsIt is concluded that the variant L opsin haplotypes underlie BED. The reduction in the amount of variant opsin produced in vitro compared with wild type indicates a possible disease mechanism. Alternatively, the recently identified defective splicing of exon 3 of the variant opsin transcript may be involved. Both mechanisms explain the presence of dichromacy and cone dystrophy. Abnormal pigment may also underlie the myopia that is invariably present in BED subjects.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.