ArticlePloS one2015
Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 40 citations in OpenAlex.
- Recovery of cone-mediated vision in Lebercilin associated retinal ciliopathy after gene therapy: One-year results of a phase I/II trial.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Trial
- Molecular mechanisms limiting the AAV gene therapy treatment window in mouse models of blue cone monochromacy.Communications biology · 2025Article
- Measuring Rod- and Cone-Photoreceptor-Specific Vision in Inherited Retinal Diseases Using a Commercial Perimeter.Investigative ophthalmology & visual science · 2025Article
- Location and Identity of Photoreceptors Contributing to the Full-Field Stimulus Test (FST).Investigative ophthalmology & visual science · 2025Review
- Molecular Mechanisms Limiting the Therapeutic Window of AAV Gene Therapy in Mouse Models of Blue Cone Monochromacy.bioRxiv : the preprint server for biology · 2025Article
- Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients.Investigative ophthalmology & visual science · 2024Article
- Evaluation of Retinal Structure and Visual Function in Blue Cone Monochromacy to Develop Clinical Endpoints for L-opsin Gene Therapy.International journal of molecular sciences · 2024Article
- Update on Clinical Trial Endpoints in Gene Therapy Trials for Inherited Retinal Diseases.Journal of clinical medicine · 2024Review
- Full-field stimulus threshold testing: a scoping review of current practice.Eye (London, England) · 2024Article
- Dyschromatopsia: a comprehensive analysis of mechanisms and cutting-edge treatments for color vision deficiency.Frontiers in neuroscience · 2024Review
- 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
- Blue cone monochromacy and gene therapy.Vision research · 2023Review
- Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial.Translational vision science & technology · 2023Article
- The landscape of submicroscopic structural variants at theProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Ocular findings and genomics of X-linked recessive disorders: A review.Indian journal of ophthalmology · 2022Review
- Fundus-controlled perimetry (microperimetry): Application as outcome measure in clinical trials.Progress in retinal and eye research · 2021Review
- Usefulness of handheld electroretinogram system for diagnosing blue-cone monochromatism in children.Japanese journal of ophthalmology · 2021Article
- Reading Performance in Blue Cone Monochromacy: Defining an Outcome Measure for a Clinical Trial.Translational vision science & technology · 2020Article
- Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium.Translational vision science & technology · 2020Review
- SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.The Journal of clinical investigation · 2020Article
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundBlue Cone Monochromacy (BCM) is an X-linked retinopathy caused by mutations in the OPN1LW / OPN1MW gene cluster, encoding long (L)- and middle (M)-wavelength sensitive cone opsins. Recent evidence shows sufficient structural integrity of cone photoreceptors in BCM to warrant consideration of a gene therapy approach to the disease. In the present study, the vision in BCM is examined, specifically seeking clinically-feasible outcomes for a future clinical trial.
methodsBCM patients (n = 25, ages 5-72) were studied with kinetic and static chromatic perimetry, full-field sensitivity testing, and eye movement recordings. Vision at the fovea and parafovea was probed with chromatic microperimetry.
resultsKinetic fields with a Goldmann size V target were generally full. Short-wavelength (S-) sensitive cone function was normal or near normal in most patients. Light-adapted perimetry results on conventional background lights were abnormally reduced; 600-nm stimuli were seen by rods whereas white stimuli were seen by both rods and S-cones. Under dark-adapted conditions, 500-nm stimuli were seen by rods in both BCM and normals. Spectral sensitivity functions in the superior retina showed retained rod and S-cone functions in BCM under dark-adapted and light-adapted conditions. In the fovea, normal subjects showed L/M-cone mediation using a 650-nm stimulus under dark-adapted conditions, whereas BCM patients had reduced sensitivity driven by rod vision. Full-field red stimuli on bright blue backgrounds were seen by L/M-cones in normal subjects whereas BCM patients had abnormally reduced and rod-mediated sensitivities. Fixation location could vary from fovea to parafovea. Chromatic microperimetry demonstrated a large loss of sensitivity to red stimuli presented on a cyan adapting background at the anatomical fovea and surrounding parafovea.
conclusionsBCM rods continue to signal vision under conditions normally associated with daylight vision. Localized and retina-wide outcome measures were examined to evaluate possible improvement of L/M-cone-based vision in a clinical trial.
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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.