Evidence map›Paper›PMID 34573386›Full record

ReviewGenes2021

Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders.

Daniel A Balikov, Adam Jacobson, Lev Prasov

Open access · goldAbstract readReview
In one paragraph

Review in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
2.8field-weighted citation impact, top 9% 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

8 citing papers in PubMed, 20 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Genetic Aspects of Glaucoma: An Updated Review.Current molecular medicine · 2024
    Review
  6. Article
  7. Article
  8. Overlap Diagnostic Odyssey and Full Mouth Rehabilitation of a Juvenile Patient With IFIH1-Related Disorder: A Case of Aicardi-Goutières and Singleton Merten Syndromes Overlap.Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
    Article
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

3 authors at 1 institution in 1 country.

Daniel A BalikovDepartment of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105, USA.ORCID 0000-0003-0392-5087
Adam JacobsonDepartment of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105, USA.ORCID 0000-0001-5035-5289
Lev PrasovDepartment of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105, USA.ORCID 0000-0002-6635-1116
University of Michigan · US

Funding

Defining the genetic landscape of nanophthalmos and the role of MYRFK08EY032098 · NEI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI PRASOV, LEV · 2021 to 2025
$1.2M
NEI NIH HHS K08 EY032098
6 · The paper itself

Abstract

Monogenic syndromic disorders frequently feature ocular manifestations, one of which is glaucoma. In many cases, glaucoma in children may go undetected, especially in those that have other severe systemic conditions that affect other parts of the eye and the body. Similarly, glaucoma may be the first presenting sign of a systemic syndrome. Awareness of syndromes associated with glaucoma is thus critical both for medical geneticists and ophthalmologists. In this review, we highlight six categories of disorders that feature glaucoma and other ocular or systemic manifestations: anterior segment dysgenesis syndromes, aniridia, metabolic disorders, collagen/vascular disorders, immunogenetic disorders, and nanophthalmos. The genetics, ocular and systemic features, and current and future treatment strategies are discussed. Findings from rare diseases also uncover important genes and pathways that may be involved in more common forms of glaucoma, and potential novel therapeutic strategies to target these pathways.

Indexed as

AniridiaCollagen DiseasesEye AbnormalitiesEye Diseases, HereditaryGlaucomaGlaucoma, Angle-ClosureHumansHyperopiaImmune System DiseasesMetabolic DiseasesMicrophthalmosSyndromeVascular DiseasesAicardi–Goutieres syndromeaniridiaanterior segment dysgenesisAxenfeld–Rieger syndromejuvenile open-angle glaucomamucopolysaccharidosisnanophthalmososteogenesis imperfectapediatric glaucomaPeter’s anomalySingleton–Merten syndromeStickler syndrome

Identifiers

PMID34573386
PMCPMC8471311
OpenAlexW3200142181

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.