ReviewBioMed research international2015
The Genetics and the Genomics of Primary Congenital Glaucoma.
Review in BioMed research international, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 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
24 citing papers in PubMed, 46 citations in OpenAlex.
- Article
- Congenital eye malformations and their impact on the health status of the Mexican population.Frontiers in medicine · 2025Article
- Article
- Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.Birth defects research · 2024Article
- Exploring the Genetic Landscape of Childhood Glaucoma.Children (Basel, Switzerland) · 2024Review
- Exome-based mutation screening in South African children with primary congenital glaucoma.Eye (London, England) · 2023Article
- Exome Sequencing RevealsGenes · 2023Article
- Distribution ofMolecular vision · 2023Article
- Successful Management of Complex Rhegmatogenous Retinal Detachment in Congenital Glaucoma.Cureus · 2021Article
- A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis.Cell death & disease · 2021Article
- Mutational analysis of CYP1B1 gene in Iranian pedigrees with glaucoma reveals known and novel mutations.International ophthalmology · 2021Article
- Visual Evoked Potentials in Operated Primary Congenital Glaucoma: A Cross-Sectional Comparative Study.Clinical ophthalmology (Auckland, N.Z.) · 2021Article
- SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma.Investigative ophthalmology & visual science · 2020Article
- Loss of PRSS56 function leads to ocular angle defects and increased susceptibility to high intraocular pressure.Disease models & mechanisms · 2020Article
- Novel mutations inMolecular vision · 2020Article
- NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant inGenes · 2019Article
- Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.Neurogenetics · 2019Review
- The Interplay between miRNA-Related Variants and Age-Related Macular Degeneration: EVIDENCE of Association ofInternational journal of molecular sciences · 2019Article
- Bilateral Retinal Angiomatous Proliferation in a Variant of Retinitis Pigmentosa.Case reports in ophthalmological medicine · 2019Article
- In silico analysis of five missense mutations in CYP1B1 gene in Pakistani families affected with primary congenital glaucoma.International ophthalmology · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The sight is one of the five senses allowing an autonomous and high-quality life, so that alterations of any ocular component may result in several clinical phenotypes (from conjunctivitis to severe vision loss and irreversible blindness). Most parts of clinical phenotypes have been significantly associated with mutations in genes regulating the normal formation and maturation of the anterior segments of the eye. Among the eye anterior segment disorders, special attention is given to Glaucoma as it represents one of the major causes of bilateral blindness in the world, with an onset due to Mendelian or multifactorial genetic-causative traits. This review will point out the attention on the Primary Congenital Glaucoma (PCG), which is usually transmitted according to an autosomal-recessive inheritance pattern. Taking into consideration the genetic component of the PCG, it is possible to observe a strong heterogeneity concerning the disease-associated loci (GLC3), penetrance defects, and expressivity of the disease. Given the strong PGC heterogeneity, pre- and posttest genetic counseling plays an essential role in the achievement of an appropriate management of PCG, in terms of medical, social, and psychological impact of the disease.
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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.