ReviewThe British journal of ophthalmology2019
Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy.
Review in The British journal of ophthalmology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 118 papers, 1 of them a synthesis that pooled it.
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
118 citing papers in PubMed, 1 synthesis or guideline pooled it, 187 citations in OpenAlex.
- A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.BMC ophthalmology · 2024Pooled it
- Persistent diffuse photoreceptor disorganization: further evidence with potential associations, long-term clinical course and therapeutic responsiveness of a new clinical entity.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Article
- The human THRB thyroid hormone receptor gene and the puzzle of retinal disease phenotypes.Developmental biology · 2026Review
- Cone-Rod DystrophyDiagnostics (Basel, Switzerland) · 2026Article
- 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
- The iCre-DTA176 Mouse Exhibits Canonical Spontaneous Network Activity Associated With Retinal Degeneration.Investigative ophthalmology & visual science · 2026Article
- Linking rare variants to cell-type function in profound autism with brain transcriptomics and foundation models.Cell genomics · 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
- Advances in RPGR gene therapy for X‑linked retinitis pigmentosa: From preclinical insights to clinical application (Review).International journal of molecular medicine · 2026Review
- PreclinicalbioRxiv : the preprint server for biology · 2026Article
- MENDELSEEK: An algorithm that predicts mendelian genes and elucidates what makes them special.PLoS computational biology · 2026Article
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- Article
- Elucidating the genetic landscape of inherited retinal disorders in India.Human genomics · 2026Review
- Article
- Article
- Patient-Reported Social Impact of Molecularly Confirmed Macular Dystrophies and Cone-Rod Dystrophies.Journal of clinical medicine · 2025Article
- A Practical Guide to Genetic Eye Conditions for Paediatricians.Journal of paediatrics and child health · 2025Review
- Novel splice variants implicated in inherited retinal dystrophies in two Moroccan families.Molecular biology reports · 2025Article
- Novel compound heterozygousExperimental and therapeutic medicine · 2025Article
58 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 3 institutions in 2 countries.
Funding
Abstract
Progressive cone and cone-rod dystrophies are a clinically and genetically heterogeneous group of inherited retinal diseases characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. These disorders typically present with progressive loss of central vision, colour vision disturbance and photophobia. Considerable progress has been made in elucidating the molecular genetics and genotype-phenotype correlations associated with these dystrophies, with mutations in at least 30 genes implicated in this group of disorders. We discuss the genetics, and clinical, psychophysical, electrophysiological and retinal imaging characteristics of cone and cone-rod dystrophies, focusing particularly on four of the most common disease-associated genes:
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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.