ReviewPhilosophical transactions of the Royal Society of London. Series B, Biological sciences2011
Clinical and experimental advances in congenital and paediatric cataracts.
Review in Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers.
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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.
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Who cites it
56 citing papers in PubMed, 99 citations in OpenAlex.
- Perception of Congenital Cataract among Saudi Parents in Saudi Arabia.Annals of African medicine · 2026Article
- Article
- Four mutations identified in Chinese families with autosomal dominant congenital cataracts by next-generation sequencing.Genes & genomics · 2024Article
- A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoforms.Journal of human genetics · 2024Article
- Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing.International ophthalmology · 2023Article
- Investigating the Clinical Characteristics andJournal of ophthalmology · 2023Article
- Hotspots and frontiers of genetic research on pediatric cataracts from 2013 to 2022: a scientometric analysis.International journal of ophthalmology · 2023Article
- Ocular development after highly effective modulator treatment early in life.Frontiers in pharmacology · 2023Review
- TGF-β/Smad Signalling Activation by HTRA1 Regulates the Function of Human Lens Epithelial Cells and Its Mechanism in Posterior Subcapsular Congenital Cataract.International journal of molecular sciences · 2022Article
- Transcriptomics Analysis of Lens from Patients with Posterior Subcapsular Congenital Cataract.Genes · 2021Article
- Commentary: Deciphering the association of intronic single-nucleotide polymorphisms of crystallin gene family with congenital cataract.Indian journal of ophthalmology · 2021Article
- Imbalances in the eye lens proteome are linked to cataract formation.Nature structural & molecular biology · 2021Article
- Cataract management in children: a review of the literature and current practice across five large UK centres.Eye (London, England) · 2020Review
- The genetic landscape of crystallins in congenital cataract.Orphanet journal of rare diseases · 2020Article
- Article
- Congenital cataract - clinical and morphological aspects.Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie · 2020Article
- GJA8 missense mutation disrupts hemichannels and induces cell apoptosis in human lens epithelial cells.Scientific reports · 2019Article
- Article
- Genetic modifiers of rodent animal models: the role in cataractogenesis.Experimental animals · 2019Review
- The effect of hyperglycinemic treatment in captive-bred Vervet monkeys (Chlorocebus aethiops).Metabolic brain disease · 2019Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cataracts (opacities of the lens) are frequent in the elderly, but rare in paediatric practice. Congenital cataracts (in industrialized countries) are mainly caused by mutations affecting lens development. Much of our knowledge about the underlying mechanisms of cataractogenesis has come from the genetic analysis of affected families: there are contributions from genes coding for transcription factors (such as FoxE3, Maf, Pitx3) and structural proteins such as crystallins or connexins. In addition, there are contributions from enzymes affecting sugar pathways (particularly the galactose pathway) and from a quite unexpected area: axon guidance molecules like ephrins and their receptors. Cataractous mouse lenses can be identified easily by visual inspection, and a remarkable number of mutant lines have now been characterized. Generally, most of the mouse mutants show a similar phenotype to their human counterparts; however, there are some remarkable differences. It should be noted that many mutations affect genes that are expressed not only in the lens, but also in tissues and organs outside the eye. There is increasing evidence for pleiotropic effects of these genes, and increasing consideration that cataracts may act as early and readily detectable biomarkers for a number of systemic syndromes.
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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.