ReviewCurrent opinion in ophthalmology2011
Genetics of anterior segment dysgenesis disorders.
Review in Current opinion in ophthalmology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 90 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
90 citing papers in PubMed, 1 synthesis or guideline pooled it, 157 citations in OpenAlex.
- Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1.Genes · 2022Pooled it
- Loss of ephrin-A5 leads to clinical signs of Peters Anomaly in a mouse model.Experimental eye research · 2026Article
- Molecular and Clinical Analyses of 111 Patients with Bilateral Anterior-Segment Dysgenesis/Aniridia and Microphthalmia/Anophthalmia.Ophthalmology science · 2026Article
- Analysis of Pediatric Secondary Glaucoma Patients Treated with Micropulse Transscleral Cyclophotocoagulation (MP-TSCPC).Life (Basel, Switzerland) · 2026Article
- Expanding the Phenotypic Spectrum of FOXC1-Related Axenfeld-Rieger Syndrome Type 3: A Case Report.Cureus · 2025Article
- Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Novel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders.International journal of molecular sciences · 2025Article
- Insights intoLife (Basel, Switzerland) · 2025Review
- Corneal endothelial characteristics and biometric parameters in microcornea.International journal of ophthalmology · 2025Article
- Clinical characteristics and ultrasound biomicroscopic evaluation of anterior segment dysgenesis: a retrospective cross-sectional study.Quantitative imaging in medicine and surgery · 2024Article
- Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study.Birth defects research · 2024Article
- Diagnostic Challenges of Axenfeld-Rieger Syndrome and a Novel FOXC1 Gene Mutation in a Polish Family.Journal of clinical medicine · 2024Article
- Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.Progress in retinal and eye research · 2024Review
- A naturally occurring canine model of syndromic congenital microphthalmia.G3 (Bethesda, Md.) · 2024Article
- TGFβ Signaling Dysregulation May Contribute to COL4A1-Related Glaucomatous Optic Nerve Damage.Investigative ophthalmology & visual science · 2024Article
- Primary Cilium in Neural Crest Cells Crucial for Anterior Segment Development and Corneal Avascularity.Investigative ophthalmology & visual science · 2024Article
- Article
- Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?American journal of ophthalmology · 2023Observational
- Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.Frontiers in genetics · 2023Article
- Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a NovelJournal of clinical medicine · 2022Article
30 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
2 authors at 2 institutions in 1 country.
Funding
Abstract
purpose of reviewAnterior segment dysgenesis (ASD) disorders encompass a spectrum of developmental conditions affecting the cornea, iris, and lens and are generally associated with an approximate 50% risk for glaucoma. These conditions are characterized by both autosomal dominant and recessive patterns of inheritance often with incomplete penetrance/variable expressivity. This article summarizes what is known about the genetics of ASD disorders and reviews recent developments. RECENT
findingsMutations in Collagen type IV alpha-1 (COL4A1) and Beta-1,3-galactosyltransferase-like (B3GALTL) have been reported in ASD patients. Novel findings in other well known ocular genes are also presented, among which regulatory region deletions in PAX6 and PITX2 are most notable. SUMMARY: Although a number of genetic causes have been identified, many ASD conditions are still awaiting genetic elucidation. The majority of characterized ASD genes encode transcription factors; several other genes represent extracellular matrix-related proteins. All of the involved genes play active roles in ocular development and demonstrate conserved functions across species. The use of novel technologies, such as whole genome sequencing/comparative genomic hybridization, is likely to broaden the mutation spectrums in known genes and assist in the identification of novel causative genes as well as modifiers explaining the phenotypic variability of ASD conditions.
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.