ReviewThe British journal of ophthalmology2020
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.
Review in The British journal of ophthalmology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
78 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.BMC ophthalmology · 2024Pooled it
- New Insights on the Regulatory Gene Network Disturbed in Central Areolar Choroidal Dystrophy-Beyond Classical Gene Candidates.Frontiers in genetics · 2022Pooled it
- AI-based clinician decision support system for diagnosis of inherited retinal diseases: a multicenter, randomized trial.Nature medicine · 2026Trial
- Epidemiology of macular dystrophy in Japan (2011-2020): a nationwide population-based study.Japanese journal of ophthalmology · 2026Article
- Biallelic Pathogenic Variants in PYGM Impair Retinal Glycogenolysis Causing a Range of Phenotypes.Investigative ophthalmology & visual science · 2026Article
- A peripheral subpopulation of retinal pigment epithelium resists oxidative damage through SERPINE3-mediated caspase-1 inhibition.The Journal of clinical investigation · 2026Article
- Article
- Multimodal Imaging of Dual BEST1/EFEMP1-Associated Hereditary Macular Disease.Journal of clinical medicine · 2026Article
- Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.Research square · 2026Article
- The human THRB thyroid hormone receptor gene and the puzzle of retinal disease phenotypes.Developmental biology · 2026Review
- Investigating PRPH2-associated retinal degeneration patient-reported outcomes in vision-related quality of life.BMC ophthalmology · 2026Article
- Article
- Boosting foundation models for rare eye disease diagnosis via a multimodal text-to-image generative framework.NPJ digital medicine · 2026Article
- Comprehensive analysis of RS1 gene mutations and clinical manifestations in nine unrelated X-linked retinoschisis (XLRS) Chinese families.BMC ophthalmology · 2026Article
- Article
- Case series: The value of fundus autofluorescence in inherited macular disease.Optometry and vision science : official publication of the American Academy of Optometry · 2026Article
- Clinical characterization and molecular analysis of X-linked juvenile retinoschisis in a northern Chinese cohort.Frontiers in genetics · 2026Article
- AI-Assisted Optical Coherence Tomography Segmentation for Enhanced Diagnosis of Inherited Retinal Diseases.Translational vision science & technology · 2025Article
- Patient-Reported Social Impact of Molecularly Confirmed Macular Dystrophies and Cone-Rod Dystrophies.Journal of clinical medicine · 2025Article
- RetiGene, a comprehensive gene atlas for inherited retinal diseases.American journal of human genetics · 2025Review
18 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
4 authors.
Funding
Abstract
Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are characterised by bilateral symmetrical central visual loss. Advances in genetic testing over the last decade have led to improved knowledge of the underlying molecular basis. The developments in high-resolution multimodal retinal imaging have also transformed our ability to make accurate and more timely diagnoses and more sensitive quantitative assessment of disease progression, and allowed the design of optimised clinical trial endpoints for novel therapeutic interventions. The aim of this review was to provide an update on MDs, including Stargardt disease, Best disease, X-linked r etinoschisis, pattern dystrophy, Sorsby fundus dystrophy and autosomal dominant drusen. It highlights the range of innovations in retinal imaging, genotype-phenotype and structure-function associations, animal models of disease and the multiple treatment strategies that are currently in clinical trial or planned in the near future, which are anticipated to lead to significant changes in the management of patients with MDs.
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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.