ReviewOphthalmic genetics2011
Allelic and phenotypic heterogeneity in ABCA4 mutations.
Review in Ophthalmic genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 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
51 citing papers in PubMed, 90 citations in OpenAlex.
- Systemic complement activation levels in Stargardt disease.PloS one · 2021Trial
- Homozygous initiation codon-altering complex variant causes rapid-onset chorioretinopathy phenotype in ABCA4 disease.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Update on the Management of ABCA4 Retinopathy (Stargardt Disease).Ophthalmology and therapy · 2026Review
- More insights from Abca4The Journal of biological chemistry · 2026Article
- Retinoic acid related orphan receptor α is a genetic modifier that rescues retinal degeneration in a mouse model of Stargardt disease and Dry AMD.Gene therapy · 2024Article
- Stargardt macular dystrophy and therapeutic approaches.The British journal of ophthalmology · 2024Review
- ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage.Investigative ophthalmology & visual science · 2023Article
- Article
- Monitoring Lesion Area Progression in Stargardt Disease: A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence.Translational vision science & technology · 2023Article
- A five-year follow-up ofMolecular vision · 2022Article
- Association ofInternational journal of environmental research and public health · 2021Article
- Perspectives of people with inherited retinal diseases on ocular gene therapy in Australia: protocol for a national survey.BMJ open · 2021Article
- Identification of Four Novel Variants and Determination of Genotype-Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations.Frontiers in cell and developmental biology · 2021Article
- A genomewide association study on individuals with occludable angles identifies potential risk loci for intraocular pressure.Journal of genetics · 2021Article
- Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations.Scientific reports · 2020Article
- The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate.European journal of human genetics : EJHG · 2020Article
- Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.The British journal of ophthalmology · 2020Review
- Prospective Cohort Study of Childhood-Onset Stargardt Disease: Fundus Autofluorescence Imaging, Progression, Comparison with Adult-Onset Disease, and Disease Symmetry.American journal of ophthalmology · 2020Article
- Article
- Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease.Translational vision science & technology · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
Since the discovery of the ABCA4 gene as the cause of autosomal recessive Stargardt disease/fundus flavimaculatus much has been written of the phenotypic variability in ABCA4 retinopathy. In this review the authors discuss the findings seen on examination and the disease features detected using various clinical tests. Important differential diagnoses are presented and unusual presentations of ABCA4 disease highlighted.
Indexed as
Identifiers
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.