ReviewProgress in retinal and eye research2020
Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.
Review in Progress in retinal and eye research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 189 papers, 1 of them a synthesis 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
189 citing papers in PubMed, 1 synthesis or guideline pooled it, 298 citations in OpenAlex.
- Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.Investigative ophthalmology & visual science · 2022Pooled it
- Efficacy and safety of minocycline in retinitis pigmentosa: a prospective, open-label, single-arm trial.Signal transduction and targeted therapy · 2024Trial
- Systemic complement activation levels in Stargardt disease.PloS one · 2021Trial
- [Genetic therapies for Stargardt disease].Die Ophthalmologie · 2026Review
- Diagnostic yield and variant spectrum of whole-exome sequencing in Iranian probands with congenital and early-onset ocular disorders.Molecular genetics and metabolism reports · 2026Article
- Loss of ABCA4 from photoreceptor discs is associated with glial transcriptomic changes in retinal organoids.Stem cells (Dayton, Ohio) · 2026Article
- Assessment of full-field stimulus test results in Stargardt disease: correlations with full-field electroretinography, multifocal electroretinography, and optical coherence tomography.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Retina-specific long non-coding RNAs associated with inherited retinal disease genes.Cellular and molecular life sciences : CMLS · 2026Article
- Article
- Cone-Rod DystrophyDiagnostics (Basel, Switzerland) · 2026Article
- Precision Medicine in Inherited Retinal Disease: Advances, Challenges, and Future Directions.Journal of personalized medicine · 2026Review
- Direct Chemical Reprogramming of Human Fibroblasts into Retinal Progenitor-like Cells for Ocular Delivery.Journal of functional biomaterials · 2026Article
- Stargardt Disease Presenting as Retinitis Pigmentosa: A Case of Monoallelic ABCA4-Associated Retinopathy.Cureus · 2026Article
- Abca4 Knockdown in the Cone-Rich Rodent Psammomys Obesus Leads to Stargardt's Disease-Like Progressive Retinal Degeneration.Investigative ophthalmology & visual science · 2026Article
- Initial Site of Macular Involvement in Central Retinal Dystrophies Revealed by Fundus Autofluorescence and Optical Coherence Tomography.Investigative ophthalmology & visual science · 2026Article
- Pilot Study of Patient-Reported Outcomes in Stargardt Disease: Correlation With Functional and Structural Findings.Investigative ophthalmology & visual science · 2026Article
- Nutritional supplements: current evidence for retinitis pigmentosa and Stargardt disease.Current opinion in ophthalmology · 2026Review
- Article
- Ciliary Defects in Inherited Retinal Diseases.Advanced genetics (Hoboken, N.J.) · 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
129 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 at 3 institutions in 2 countries.
Funding
Abstract
The ABCA4 protein (then called a "rim protein") was first identified in 1978 in the rims and incisures of rod photoreceptors. The corresponding gene, ABCA4, was cloned in 1997, and variants were identified as the cause of autosomal recessive Stargardt disease (STGD1). Over the next two decades, variation in ABCA4 has been attributed to phenotypes other than the classically defined STGD1 or fundus flavimaculatus, ranging from early onset and fast progressing cone-rod dystrophy and retinitis pigmentosa-like phenotypes to very late onset cases of mostly mild disease sometimes resembling, and confused with, age-related macular degeneration. Similarly, analysis of the ABCA4 locus uncovered a trove of genetic information, including >1200 disease-causing mutations of varying severity, and of all types - missense, nonsense, small deletions/insertions, and splicing affecting variants, of which many are located deep-intronic. Altogether, this has greatly expanded our understanding of complexity not only of the diseases caused by ABCA4 mutations, but of all Mendelian diseases in general. This review provides an in depth assessment of the cumulative knowledge of ABCA4-associated retinopathy - clinical manifestations, genetic complexity, pathophysiology as well as current and proposed therapeutic approaches.
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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.