ArticleMolecular vision2018
Article in Molecular vision, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1.Genes · 2022Pooled it
- Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.Genes · 2025Review
- Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024Article
- The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families.Investigative ophthalmology & visual science · 2024Article
- A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD.BMC medical genomics · 2023Article
- A new association of PAX6 variation with Juvenile onset open angle glaucoma.Journal of human genetics · 2023Article
- Diversity of clinical phenotypes in a cohort of Han Chinese patients withFrontiers in genetics · 2023Article
- A rare case of congenital aniridia with an unusual run-on mutation inIndian journal of ophthalmology · 2022Article
- Relative Frequencies ofInternational journal of molecular sciences · 2022Review
- Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia.JCI insight · 2021Observational
- Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.Genes · 2021Article
- Novel mutations of theMolecular vision · 2021Article
- PAX6 Genotypic and Retinal Phenotypic Characterization in Congenital Aniridia.Investigative ophthalmology & visual science · 2020Article
- Mutation spectrum ofMolecular vision · 2020Article
- Identification of a novel PAX6 mutation in a Chinese family with aniridia.BMC ophthalmology · 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
10 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: Aniridia is a congenital disorder caused by variants in the Methods: Twenty-nine individuals with aniridia from 18 families originating from Australia, New Caledonia, Cambodia, Sri Lanka, and Bhutan were included. The Results: We identified 11 sequence variants and six chromosomal deletions, including one in mosaic. Four deleterious sequence variants were novel: p.(Pro81HisfsTer12), p.(Gln274Ter), p.(Ile29Thr), and p.(Met1?). Ocular complications were associated with a progressive loss of visual function as shown by a visual acuity ≤ 1.00 logMAR reported in 65% of eyes. The prevalence of keratopathy was statistically significantly higher in the Australasian cohort (78.6%) compared with the Southeast Asian cohort (9.1%, p=0.002). Variants resulting in protein truncating codons displayed limited genotype-phenotype correlations compared with other variants. Conclusions:
Indexed as
Identifiers
29618921PMC5873721W2798064475What 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.