ArticleInvestigative ophthalmology & visual science2018
Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations.
Article in Investigative ophthalmology & visual science, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
21 citing papers in PubMed, 35 citations in OpenAlex.
- Neural contrast sensitivity is not affected by myopic blur.Scientific reports · 2025Article
- Peak Cone Density Predicted from Outer Segment Length Measured on Optical Coherence Tomography.Current eye research · 2024Article
- Change in Cone Structure Over 24 Months in USH2A-Related Retinal Degeneration.American journal of ophthalmology · 2023Article
- Adaptive Optics Imaging of Inherited Retinal Disease.Cold Spring Harbor perspectives in medicine · 2023Review
- 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
- Comparison of Cone Mosaic Metrics From Images Acquired With the SPECTRALIS High Magnification Module and Adaptive Optics Scanning Light Ophthalmoscopy.Translational vision science & technology · 2022Article
- Intermixing theGenes · 2021Review
- Promises and pitfalls of evaluating photoreceptor-based retinal disease with adaptive optics scanning light ophthalmoscopy (AOSLO).Progress in retinal and eye research · 2021Review
- Ametropia and Emmetropization in CNGB3 Achromatopsia.Investigative ophthalmology & visual science · 2021Article
- Revealing How Color Vision Phenotype and Genotype Manifest in Individual Cone Cells.Investigative ophthalmology & visual science · 2021Article
- Reading Performance in Blue Cone Monochromacy: Defining an Outcome Measure for a Clinical Trial.Translational vision science & technology · 2020Article
- Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy.American journal of ophthalmology · 2020Article
- Retinal imaging in inherited retinal diseases.Annals of eye science · 2020Article
- Deep Phenotyping of PDE6C-Associated Achromatopsia.Investigative ophthalmology & visual science · 2019Article
- Photopigment genes, cones, and color update: disrupting the splicing code causes a diverse array of vision disorders.Current opinion in behavioral sciences · 2019Article
- The association between L:M cone ratio, cone opsin genes and myopia susceptibility.Vision research · 2019Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
Purpose: To assess residual cone structure in subjects with mutations in exon 2, 3, and 4 of the OPN1LW or OPN1MW opsin. Methods: Thirteen males had their OPN1LW/OPN1MW opsin genes characterized. The cone mosaic was imaged using both confocal and nonconfocal split-detection adaptive optics scanning light ophthalmoscopy (AOSLO), and retinal thickness was evaluated using optical coherence tomography (OCT). Six subjects completed serial imaging over a maximum period of 18 months and cone density was measured across imaging sessions. Results: Ten subjects had an OPN1LW/OPN1MW "interchange" opsin mutation designated as LIAVA or LVAVA, which both introduce exon 3 splicing defects leading to a lack of functional photopigment in cones expressing LIAVA and greatly reduced functional photopigment in cones expressing LVAVA. Despite disrupted cone reflectivity and reduced numerosity, residual inner segments could be visualized. Similar patterns were observed in individuals with an exon 2 insertion, or an exon 4 splice defect, both of which are also expected to produce cones that are devoid of functional opsin protein. OCT revealed variably reduced retinal thickness. A significant inverse relationship was found between the proportion of waveguiding cones and axial length. Conclusions: Split-detection imaging revealed that the altered appearance of the cone mosaic in confocal images for subjects with exon 2, 3, and 4 mutations was generally due to disrupted waveguiding, rather than structural loss, making them possible candidates for gene therapy to restore cone function. The relative fraction of waveguiding cones was highly variable across subjects, which appears to influence emmetropization in these 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.