ReviewCold Spring Harbor perspectives in medicine2015
Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications.
Review in Cold Spring Harbor perspectives in medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- Association of Gene Polymorphisms with Normal Tension Glaucoma: A Systematic Review and Meta-Analysis.Genes · 2024Pooled it
- The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the Disease.International journal of molecular sciences · 2024Article
- Chemical Insights into Topical Agents in Intraocular Pressure Management: From Glaucoma Etiopathology to Therapeutic Approaches.Pharmaceutics · 2024Review
- Genetic Aspects of Glaucoma: An Updated Review.Current molecular medicine · 2024Review
- Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.European journal of neurology · 2023Article
- Review
- Identification of hub genes for glaucoma: a study based on bioinformatics analysis and experimental verification.International journal of ophthalmology · 2023Article
- EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma.Human mutation · 2022Article
- Role of glia in optic nerve.Progress in retinal and eye research · 2021Review
- SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma.Investigative ophthalmology & visual science · 2020Article
- Clinical and genetic analysis of Ser341ProInternational journal of ophthalmology · 2020Article
- Novel mutations inMolecular vision · 2020Article
- Childhood glaucoma genes and phenotypes: Focus on FOXC1 mutations causing anterior segment dysgenesis and hearing loss.Experimental eye research · 2020Review
- Clinical implications of recent advances in primary open-angle glaucoma genetics.Eye (London, England) · 2020Review
- Genetics of glaucoma.Human molecular genetics · 2017Review
- Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according toMolecular vision · 2017Article
- Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.The Journal of clinical investigation · 2016Article
- Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.Genetics research · 2016Article
- Glaucoma Genes and Mechanisms.Progress in molecular biology and translational science · 2015Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Inherited disorders of the optic nerve significantly impact vision in children and adults. The optic nerve disorders most commonly encountered clinically are glaucoma and primary optic neuropathy including Leber's hereditary optic neuropathy (LHON) and autosomal dominant or Kjer's optic atrophy. Current knowledge of the genetics of optic neuropathy and glaucoma makes it possible to test for mutations in disease-causing genes allowing for presymptomatic testing and risk assessment, and recent advances have revealed important disease mechanisms that may suggest potential therapeutic targets. In this perspective, we describe the current approaches and limitations to genetic testing for these disorders and provide an update on the development of gene-based therapies.
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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.