ArticleInvestigative ophthalmology & visual science2016
Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia.
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. It is linked to trial NCT01846052 (Clinical and Genetic Characterization of Individuals With Achromatopsia), which is not on this map. Cited by 83 papers.
What it found
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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.
The trial behind it
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.
Clinical and Genetic Characterization of Individuals With Achromatopsia
Who cites it
83 citing papers in PubMed, 109 citations in OpenAlex.
- Use of a Retinal Phantom to Facilitate Adaptive Optics Scanning Light Ophthalmoscopy Imaging in a Multicenter Clinical Trial.Translational vision science & technology · 2026Trial
- REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA.Retina (Philadelphia, Pa.) · 2017Trial
- Temporal vision adaptation and restoration in achromatopsia.iScience · 2026Article
- In Vivo Human Cone Photoreceptor Inner Segment Diameter Database Using Adaptive Optics Retinal Imaging.Investigative ophthalmology & visual science · 2026Article
- Reflective broadband adaptive optics scanning light ophthalmoscope with 20 D focus range.Biomedical optics express · 2026Article
- Assessing the Relationship between Foveal Cone Density, Outer Nuclear Layer Thickness and Foveal Morphology.Ophthalmology science · 2026Article
- Phenotypic spectrum and theoretical prime editing analysis of WDR19-mediated retinal degeneration.Documenta ophthalmologica. Advances in ophthalmology · 2025Article
- Discrepancies Between Autofluorescence Imaging Modalities in CNGB3-Associated Achromatopsia and Correlation With Ellipsoid Zone Continuity.Translational vision science & technology · 2025Article
- From Cellular to Metabolic: Advances in Imaging of Inherited Retinal Diseases.Diagnostics (Basel, Switzerland) · 2024Review
- Longitudinal Imaging of the Foveal Cone Mosaic in CNGA3-Associated Achromatopsia.Investigative ophthalmology & visual science · 2024Article
- Update on Clinical Trial Endpoints in Gene Therapy Trials for Inherited Retinal Diseases.Journal of clinical medicine · 2024Review
- Gene Therapy for Achromatopsia.International journal of molecular sciences · 2024Review
- Intervisit Reproducibility of Foveal Cone Density Metrics.Translational vision science & technology · 2024Article
- Retinal Imaging Findings in Inherited Retinal Diseases.Journal of clinical medicine · 2024Review
- Longitudinal Assessment of OCT-Based Measures of Foveal Cone Structure in Achromatopsia.Investigative ophthalmology & visual science · 2024Article
- Peak Cone Density Predicted from Outer Segment Length Measured on Optical Coherence Tomography.Current eye research · 2024Article
- Adaptive optics retinal imaging in patients with usher syndrome.Frontiers in ophthalmology · 2024Article
- Dyschromatopsia: a comprehensive analysis of mechanisms and cutting-edge treatments for color vision deficiency.Frontiers in neuroscience · 2024Review
- The effect of sampling window size on topographical maps of foveal cone density.Frontiers in ophthalmology · 2024Article
- Multimodal in-vivo maps as a tool to characterize retinal structural biomarkers for progression in adult-onset Stargardt disease.Frontiers in ophthalmology · 2024Article
23 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors at 7 institutions in 2 countries.
Funding
Abstract
purposeCongenital achromatopsia (ACHM) is an autosomal recessive disorder in which cone function is absent or severely reduced. Gene therapy in animal models of ACHM have shown restoration of cone function, though translation of these results to humans relies, in part, on the presence of viable cone photoreceptors at the time of treatment. Here, we characterized residual cone structure in subjects with CNGB3-associated ACHM.
methodsHigh-resolution imaging (optical coherence tomography [OCT] and adaptive optics scanning light ophthalmoscopy [AOSLO]) was performed in 51 subjects with CNGB3-associated ACHM. Peak cone density and inter-cone spacing at the fovea was measured using split-detection AOSLO. Foveal outer nuclear layer thickness was measured in OCT images, and the integrity of the photoreceptor layer was assessed using a previously published OCT grading scheme.
resultsAnalyzable images of the foveal cones were obtained in 26 of 51 subjects, with nystagmus representing the major obstacle to obtaining high-quality images. Peak foveal cone density ranged from 7,273 to 53,554 cones/mm2, significantly lower than normal (range, 84,733-234,391 cones/mm2), with the remnant cones being either contiguously or sparsely arranged. Peak cone density was correlated with OCT integrity grade; however, there was overlap of the density ranges between OCT grades.
conclusionsThe degree of residual foveal cone structure varies greatly among subjects with CNGB3-associated ACHM. Such measurements may be useful in estimating the therapeutic potential of a given retina, providing affected individuals and physicians with valuable information to more accurately assess the risk-benefit ratio as they consider enrolling in experimental gene therapy trials. (www.clinicaltrials.gov, NCT01846052.).
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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.