SynthesisMolecular vision2011
Chromosome abnormalities and the genetics of congenital corneal opacification.
Synthesis in Molecular vision, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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
14 citing papers in PubMed.
- Loss of ephrin-A5 leads to clinical signs of Peters Anomaly in a mouse model.Experimental eye research · 2026Article
- The Co-Occurrence of 22q11.2 Deletion Syndrome and Epithelial Basement Membrane Dystrophy: A Case Report and Review of the Literature.Life (Basel, Switzerland) · 2024Review
- General Treatment and Ophthalmic Management of Peters' Anomaly.Journal of clinical medicine · 2024Review
- Experience of applying cosmetic Etafilcon A contact lens in cases with microcornea.Arquivos brasileiros de oftalmologia · 2021Article
- Novel Mutations inFrontiers in cell and developmental biology · 2020Article
- Clinicopathologic Features and Treatment Characteristics of Congenital Corneal Opacity Infants and Children Aged 3 Years or Less: A Retrospective Single Institution Analysis.Medical principles and practice : international journal of the Kuwait University, Health Science Centre · 2020Article
- A method to preserve limbus during penetrating keratoplasty for a case of presumed PHACES syndrome with sclerocornea: A case report.Medicine · 2016Article
- Impaired ADAMTS9 secretion: A potential mechanism for eye defects in Peters Plus Syndrome.Scientific reports · 2016Article
- The Palisades of Vogt in Congenital Corneal Opacification (An American Ophthalmological Society Thesis).Transactions of the American Ophthalmological Society · 2016Article
- Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion.American journal of medical genetics. Part A · 2014Article
- Epithelial phenotype in total sclerocornea.Molecular vision · 2014Article
- An epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village.Molecular vision · 2013Article
- FOXC1-associated phenotypes in humans may not always exhibit corneal neovascularization.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital corneal opacification (CCO) encompasses a broad spectrum of disorders that have different etiologies, including genetic and environmental. Terminology used in clinical phenotyping is commonly not specific enough to describe separate entities, for example both the terms Peters anomaly and sclerocornea have been ascribed to a clinical picture of total CCO, without investigating the presence or absence of iridocorneal adhesions. This is not only confusing but also unhelpful in determining valid genotype-phenotype correlations, and thereby revealing clues for pathogenesis. We undertook a systematic review of the literature focusing on CCO as part of anterior segment developmental anomalies (ASDA), and analyzed its association specifically with chromosomal abnormalities. Genes previously identified as being associated with CCO are also summarized. All reports were critically appraised to classify phenotypes according to described features, rather than the given diagnosis. Some interesting associations were found, and are discussed.
Indexed as
Identifiers
21738392PMC3123159What 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.