ReviewExperimental eye research2020
Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.
Review in Experimental eye research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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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.
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Who cites it
18 citing papers in PubMed, 48 citations in OpenAlex.
- Article
- Atypical superotemporal iris and retinal coloboma.American journal of ophthalmology case reports · 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
- Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.Journal of human genetics · 2025Article
- Microspherophakia with an atypical temporal iris coloboma in a young female.BMJ case reports · 2025Article
- Congenital eye malformations and their impact on the health status of the Mexican population.Frontiers in medicine · 2025Article
- Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.Human genetics · 2024Article
- Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study.Birth defects research · 2024Article
- Non-nasal, atypical retinochoroidal coloboma in pediatric patients: Case series and review.American journal of ophthalmology case reports · 2024Article
- Evaluation of baseline optic disc pit and optic disc coloboma maculopathy features by spectral domain optical coherence tomography.International journal of retina and vitreous · 2023Article
- Oculo auriculo vertebral spectrum and CHARGE association.BMJ case reports · 2023Article
- Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure.Investigative ophthalmology & visual science · 2022Article
- Cell fate decisions, transcription factors and signaling during early retinal development.Progress in retinal and eye research · 2022Review
- Bilateral congenital uveal coloboma concurrent with retinal detachment.International journal of ophthalmology · 2022Article
- Article
- Nf2 fine-tunes proliferation and tissue alignment during closure of the optic fissure in the embryonic mouse eye.Human molecular genetics · 2020Article
- Ocular coloboma combined with cleft lip and palate: a case report.BMC ophthalmology · 2020Article
- Review
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Optic fissure closure defects result in uveal coloboma, a potentially blinding condition affecting between 0.5 and 2.6 per 10,000 births that may cause up to 10% of childhood blindness. Uveal coloboma is on a phenotypic continuum with microphthalmia (small eye) and anophthalmia (primordial/no ocular tissue), the so-called MAC spectrum. This review gives a brief overview of the developmental biology behind coloboma and its clinical presentation/spectrum. Special attention will be given to two prominent, syndromic forms of coloboma, namely, CHARGE (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies/deafness) and COACH (Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Coloboma, and Hepatic fibrosis) syndromes. Approaches employed to identify genes involved in optic fissure closure in animal models and recent advances in live imaging of zebrafish eye development are also discussed.
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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.