Evidence map›Paper›PMID 28549150›Full record

ReviewHuman molecular genetics2017

Primary congenital and developmental glaucomas.

Carly J Lewis, Adam Hedberg-Buenz, Adam P DeLuca, Edwin M Stone, Wallace L M Alward, John H Fingert

Open access · bronzeAbstract readReview
In one paragraph

Review in Human molecular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
64citing papers in PubMed, 2 pooled it
9.8field-weighted citation impact, top 1% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

64 citing papers in PubMed, 2 syntheses or guidelines pooled it, 130 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
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  4. Review
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
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  11. Article
  12. Journal of pediatric genetics · 2024
    Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Exploring the Genetic Landscape of Childhood Glaucoma.Children (Basel, Switzerland) · 2024
    Review
  19. Article
  20. Multi-organ phenotypes in mice lacking latent TGFβ binding protein 2 (LTBP2).Developmental dynamics : an official publication of the American Association of Anatomists · 2024
    Review

4 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 1 institution in 1 country.

Carly J LewisDepartment of Molecular Physiology and Biophysics, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Adam Hedberg-BuenzDepartment of Molecular Physiology and Biophysics, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Adam P DeLucaDepartment of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Edwin M StoneDepartment of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Wallace L M AlwardDepartment of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
John H FingertDepartment of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
University of Iowa · US

Funding

MEDICAL SCIENTIST TRAINING PROGRAMT32GM007337 · NIGMS · UNIVERSITY OF IOWA · PI GEYER, PAMELA K., LENTZ, STEVEN R · 1985 to 2020
$15.9M
Stem Cell and Organoid CoreP30EY025580 · NEI · UNIVERSITY OF IOWA · PI Michael G Anderson, Robert Foster Mullins · 2016 to 2026
$6.9M
Genetic dissection of pigment dispersing iris diseaseR01EY017673 · NEI · UNIVERSITY OF IOWA · PI ANDERSON, MICHAEL G · 2008 to 2017
$3.1M
Molecular Genetics of Norma Tension GlaucomaR01EY023512 · NEI · UNIVERSITY OF IOWA · PI FINGERT, JOHN H, MULLINS, ROBERT FOSTER · 2014 to 2017
$1.8M
NEI NIH HHS P30 EY025580NEI NIH HHS R01 EY017673NEI NIH HHS R01 EY023512NIGMS NIH HHS T32 GM007337
6 · The paper itself

Abstract

Glaucoma is the leading cause of irreversible blindness worldwide. Although most glaucoma patients are elderly, congenital glaucoma and glaucomas of childhood are also important causes of visual disability. Primary congenital glaucoma (PCG) is isolated, non-syndromic glaucoma that occurs in the first three years of life and is a major cause of childhood blindness. Other early-onset glaucomas may arise secondary to developmental abnormalities, such as glaucomas that occur with aniridia or as part of Axenfeld-Rieger syndrome. Congenital and childhood glaucomas have strong genetic bases and disease-causing mutations have been discovered in several genes. Mutations in three genes (CYP1B1, LTBP2, TEK) have been reported in PCG patients. Axenfeld-Rieger syndrome is caused by mutations in PITX2 or FOXC1 and aniridia is caused by PAX6 mutations. This review discusses the roles of these genes in primary congenital glaucoma and glaucomas of childhood.

Indexed as

AniridiaAnterior Eye SegmentCytochrome P-450 CYP1B1Eye AbnormalitiesEye Diseases, HereditaryEye ProteinsForkhead Transcription FactorsGlaucomaHomeobox Protein PITX2Homeodomain ProteinsHumansLatent TGF-beta Binding ProteinsMutationPAX6 Transcription FactorTranscription FactorsCYP1B1 protein, humanCytochrome P-450 CYP1B1Eye ProteinsForkhead Transcription FactorsFOXC1 protein, humanHomeobox Protein PITX2Homeodomain ProteinsLatent TGF-beta Binding ProteinsLTBP2 protein, humanPAX6 protein, humanPAX6 Transcription FactorTranscription Factors

Identifiers

PMID28549150
PMCPMC5886473
OpenAlexW2617006675

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.