ArticleThe British journal of ophthalmology2019
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
Article 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 35 papers.
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
35 citing papers in PubMed.
- ABCA4-Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and Characterization of Potentially Novel Variants.Molecular genetics & genomic medicine · 2026Article
- Article
- Genetic Correlates of Phenotypic Variability in c.5882G>A p.(Gly1961Glu)-Associated Stargardt Disease.Investigative ophthalmology & visual science · 2026Article
- A novel modifier gene therapy to treat Stargardt disease: Phase 1 GARDian1 Trial Insights.Eye (London, England) · 2026Article
- Advancements in CRISPR-based therapies for ocular pathologies: from disease mechanisms to intervention strategies.Theranostics · 2026Review
- Baseline Relationships between Visual Function and Inflammatory Markers in the Registry of Moderated-Stage Retinitis Pigmentosa.Ophthalmology science · 2026Article
- A 15 bp non-canonical splice-site deletion in ABCA4 linked with retinitis pigmentosa and myopia: insights into splicing defects and phenotypic variability.Molecular biology reports · 2025Article
- Stargardt's Connected Research Network Inaugural Meeting: Landscape Review and Horizon Scanning of Stargardt Disease.Translational vision science & technology · 2025Review
- Advances in machine learning for ABCA4-related retinopathy: segmentation and phenotyping.International ophthalmology · 2025Review
- Stargardt's Disease: Molecular Pathogenesis and Current Therapeutic Landscape.International journal of molecular sciences · 2025Review
- Generation of a compound heterozygous ABCA4 rat model with pathological features of STGD1.Human molecular genetics · 2025Article
- Study protocol for a prospective natural history registry investigating the relationships between inflammatory markers and disease progression in retinitis pigmentosa: the RP-PRIMARY study.Japanese journal of ophthalmology · 2025Observational
- Clinical and Genetic Characteristics of 18 Patients from Southeast China with ABCA4-Associated Stargardt Disease.International journal of molecular sciences · 2025Article
- High-efficiency base editing in the retina in primates and human tissues.Nature medicine · 2025Article
- The Great Genotyper: a graph-based method for population genotyping of small and structural variants.GigaScience · 2025Article
- Contribution of genetic test results to patient management in ophthalmology: results from a Turkish Stargardt disease cohort.Turkish journal of medical sciences · 2025Article
- An adenine base editor variant expands context compatibility.Nature biotechnology · 2024Article
- The ABCs of Stargardt disease: the latest advances in precision medicine.Cell & bioscience · 2024Review
- Article
- Stargardt macular dystrophy and therapeutic approaches.The British journal of ophthalmology · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors.
Funding
Abstract
BACKGROUND/
aimsTo describe the genetic characteristics of the cohort enrolled in the international multicentre progression of Stargardt disease 1 (STGD1) studies (ProgStar) and to determine geographic differences based on the allele frequency.
methods345 participants with a clinical diagnosis of STGD1 and harbouring at least one disease-causing ABCA4 variant were enrolled from 9 centres in the USA and Europe. All variants were reviewed and
results211 likely pathogenic variants were identified in the total cohort, including missense (63%), splice site alteration (18%), stop (9%) and others. 50 variants were novel. Exclusively missense variants were detected in 139 (50%) of 279 patients with multiple pathogenic variants. The three most prevalent variants of these patients with multiple pathogenic variants were p.G1961E (15%), p.G863A (7%) and c.5461-10 T>C (5%). Subgroup analysis revealed a statistically significant difference between the four recruiting nations in the allele frequency of nine variants.
conclusionsThere is a large spectrum of ABCA4 sequence variants, including 50 novel variants, in a well-characterised cohort thereby further adding to the unique allelic heterogeneity in STGD1. Approximately half of the cohort harbours missense variants only, indicating a relatively mild phenotype of the ProgStar cohort. There are significant differences in allele frequencies between nations, although the three most prevalent variants are shared as frequent variants.
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.