ReviewJournal of medical genetics2004
Ocular coloboma: a reassessment in the age of molecular neuroscience.
Review in Journal of medical genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 113 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
113 citing papers in PubMed, 246 citations in OpenAlex.
- Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.European journal of human genetics : EJHG · 2014Trial
- A large novel deletion downstream of PAX6 gene in a Chinese family with ocular coloboma.PloS one · 2013Trial
- Loss of Hippo Signaling Causes Coloboma via Steric Obstruction of Optic Fissure Fusion.Investigative ophthalmology & visual science · 2026Article
- Article
- Reciprocal E-cadherin signaling aligns apical surfaces between neighboring epithelial tissues to complete the C. elegans digestive tract.Current biology : CB · 2026Article
- Loss of Hippo signaling causes transdifferentiation of neural retina between the optic fissure edges causing coloboma.bioRxiv : the preprint server for biology · 2026Article
- Transgene-Induced Chromosomal Rearrangement With Aberrant Human Vascular Endothelial Growth Factor at the Optic Fissure Leads to Uveal Coloboma in Mice.Investigative ophthalmology & visual science · 2025Observational
- ATranslational pediatrics · 2025Article
- A stable NTN1 fluorescent reporter chicken reveals cell specific molecular signatures during optic fissure closure.Scientific reports · 2025Article
- Increased Netrin downstream of overactive Hedgehog signaling disrupts optic fissure formation.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Article
- Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study.Birth defects research · 2024Article
- Increased Netrin downstream of overactive Hedgehog signaling disrupts optic fissure formation.bioRxiv : the preprint server for biology · 2024Article
- Macular corneal dystrophy with iridofundal coloboma in the same patient: a unique combination.BMJ case reports · 2024Article
- Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT).Pediatric nephrology (Berlin, Germany) · 2024Review
- Congenital Malformations of the Eye: A Pictorial Review and Clinico-Radiological Correlations.Journal of ophthalmology · 2024Review
- Mutation ofeLife · 2023Article
- Identification of Novel Coloboma Candidate Genes through Conserved Gene Expression Analyses across Four Vertebrate Species.Biomolecules · 2023Article
- Cell fate decisions, transcription factors and signaling during early retinal development.Progress in retinal and eye research · 2022Review
- Pax2a, but not pax2b, influences cell survival and periocular mesenchyme localization to facilitate zebrafish optic fissure closure.Developmental dynamics : an official publication of the American Association of Anatomists · 2022Article
- Loss of zebrafish dzip1 results in inappropriate recruitment of periocular mesenchyme to the optic fissure and ocular coloboma.PloS one · 2022Article
53 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 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital colobomata of the eye are important causes of childhood visual impairment and blindness. Ocular coloboma can be seen in isolation and in an impressive number of multisystem syndromes, where the eye phenotype is often seen in association with severe neurological or craniofacial anomalies or other systemic developmental defects. Several studies have shown that, in addition to inheritance, environmental influences may be causative factors. Through work to identify genes underlying inherited coloboma, significant inroads are being made into understanding the molecular events controlling closure of the optic fissure. In general, severity of disease can be linked to the temporal expression of the gene, but this is modified by factors such as tissue specificity of gene expression and genetic redundancy.
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.