ArticleInvestigative ophthalmology & visual science2016
Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency.
Article in Investigative ophthalmology & visual science, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 45 citations in OpenAlex.
- Cone Opsins and Inherited Retinal Disease.Cells · 2026Review
- Case series: The value of fundus autofluorescence in inherited macular disease.Optometry and vision science : official publication of the American Academy of Optometry · 2026Article
- Diffusion Optics Technology (DOT): A Myopia Control Spectacle Lens Based on Contrast Theory.Translational vision science & technology · 2024Review
- Intervisit Reproducibility of Foveal Cone Density Metrics.Translational vision science & technology · 2024Article
- Change in Cone Structure Over 24 Months in USH2A-Related Retinal Degeneration.American journal of ophthalmology · 2023Article
- Preclinical evaluation of ADVM-062, a novel intravitreal gene therapy vector for the treatment of blue cone monochromacy.Molecular therapy : the journal of the American Society of Gene Therapy · 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
- Foveal Cone Structure in Patients With Blue Cone Monochromacy.Investigative ophthalmology & visual science · 2022Article
- NovelInternational journal of molecular sciences · 2022Article
- Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases.Investigative ophthalmology & visual science · 2022Article
- Insight fromGenes · 2022Article
- Long-term retinal imaging of a case of suspected congenital rubella infection.American journal of ophthalmology case reports · 2022Article
- Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes.Molecular vision · 2022Article
- Challenges Associated With Ellipsoid Zone Intensity Measurements Using Optical Coherence Tomography.Translational vision science & technology · 2021Article
- Intermixing theGenes · 2021Review
- Comparison of confocal and non-confocal split-detection cone photoreceptor imaging.Biomedical optics express · 2021Article
- Article
- Retinal imaging in inherited retinal diseases.Annals of eye science · 2020Article
- Visual Acuity and Foveal Structure in Eyes with Fragmented Foveal Avascular Zones.Ophthalmology. Retina · 2020Article
- Photopigment genes, cones, and color update: disrupting the splicing code causes a diverse array of vision disorders.Current opinion in behavioral sciences · 2019Article
Corrections and comments
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Authors and funding
21 authors at 8 institutions in 3 countries.
Funding
Abstract
purposeMutations in the coding sequence of the L and M opsin genes are often associated with X-linked cone dysfunction (such as Bornholm Eye Disease, BED), though the exact color vision phenotype associated with these disorders is variable. We examined individuals with L/M opsin gene mutations to clarify the link between color vision deficiency and cone dysfunction.
methodsWe recruited 17 males for imaging. The thickness and integrity of the photoreceptor layers were evaluated using spectral-domain optical coherence tomography. Cone density was measured using high-resolution images of the cone mosaic obtained with adaptive optics scanning light ophthalmoscopy. The L/M opsin gene array was characterized in 16 subjects, including at least one subject from each family.
resultsThere were six subjects with the LVAVA haplotype encoded by exon 3, seven with LIAVA, two with the Cys203Arg mutation encoded by exon 4, and two with a novel insertion in exon 2. Foveal cone structure and retinal thickness was disrupted to a variable degree, even among related individuals with the same L/M array.
conclusionsOur findings provide a direct link between disruption of the cone mosaic and L/M opsin variants. We hypothesize that, in addition to large phenotypic differences between different L/M opsin variants, the ratio of expression of first versus downstream genes in the L/M array contributes to phenotypic diversity. While the L/M opsin mutations underlie the cone dysfunction in all of the subjects tested, the color vision defect can be caused either by the same mutation or a gene rearrangement at the same locus.
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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.