ReviewThe British journal of ophthalmology2016
The cone dysfunction syndromes.
Review in The British journal of ophthalmology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 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
86 citing papers in PubMed, 309 citations in OpenAlex.
- Multiexon deletion alleles of ATF6 linked to achromatopsia.JCI insight · 2020Trial
- Cone Opsins and Inherited Retinal Disease.Cells · 2026Review
- Sporadic cone-rod dystrophy caused by a heterozygous RAB28 p.Ser23Phe pathogenic variant and a de novo 4p16.1p15.33 deletion.BMC medical genomics · 2026Article
- PreclinicalbioRxiv : the preprint server for biology · 2026Article
- Article
- Review
- Heightened visual light sensitivity discomfort measured by the ocular photosensitivity analyzer is associated with chronic ocular pain.The ocular surface · 2025Article
- Measuring Rod- and Cone-Photoreceptor-Specific Vision in Inherited Retinal Diseases Using a Commercial Perimeter.Investigative ophthalmology & visual science · 2025Article
- Longitudinal Changes in Optoretinography Provide an Early and Sensitive Biomarker of Outer Retinal Disease.American journal of ophthalmology · 2025Article
- Expanding the genetic spectrum of achromatopsia: novel CNGA3 and CNGB3 variants.International ophthalmology · 2025Article
- Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review.Clinical & experimental ophthalmology · 2025Review
- Pathogenic Deep Intronic Variant inCase reports in genetics · 2025Article
- Genetic phenotypic characteristics and inheritance patterns of patients with achromatopsia at a large academic institution and a review of the literature and gene therapies.Molecular vision · 2025Review
- Blue Cone Monochromatism.Advances in experimental medicine and biology · 2025Review
- Patient-Reported Experience Measurements From Individuals With Inherited Retinal Disorders Involved in Observational Research.Translational vision science & technology · 2024Article
- AAmerican journal of ophthalmology case reports · 2024Article
- Infantile Nystagmus Syndrome-Associated Inherited Retinal Diseases: Perspectives from Gene Therapy Clinical Trials.Life (Basel, Switzerland) · 2024Review
- Longitudinal Imaging of the Foveal Cone Mosaic in CNGA3-Associated Achromatopsia.Investigative ophthalmology & visual science · 2024Article
- S-cone contribution to oscillatory potentials in patients with blue cone monochromacy.Documenta ophthalmologica. Advances in ophthalmology · 2024Article
- The Extraordinary Phenotypic and Genetic Variability of Retinal and Macular Degenerations: The Relevance to Therapeutic Developments.Cold Spring Harbor perspectives in medicine · 2024Review
26 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
5 authors at 2 institutions in 2 countries.
Funding
Abstract
The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly stationary retinal disorders characterised by reduced central vision and varying degrees of colour vision abnormalities, nystagmus and photophobia. This review details the following conditions: complete and incomplete achromatopsia, blue-cone monochromatism, oligocone trichromacy, bradyopsia and Bornholm eye disease. We describe the clinical, psychophysical, electrophysiological and imaging findings that are characteristic to each condition in order to aid their accurate diagnosis, as well as highlight some classically held notions about these diseases that have come to be challenged over the recent years. The latest data regarding the genetic aetiology and pathological changes observed in the cone dysfunction syndromes are discussed, and, where relevant, translational avenues of research, including completed and anticipated interventional clinical trials, for some of the diseases described herein will be presented. Finally, we briefly review the current management of these disorders.
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What OpenQuestion holds
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.