Evidence map›Paper›PMID 38056551›Full record

ArticleExperimental eye research2024

Reduction of lens size in PAX6-related aniridia.

Melinda K Duncan, Alejandra Daruich, Sophie Valleix, Dominique Bremond-Gignac

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Experimental eye research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
1.1field-weighted citation impact, top 20% 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

2 citing papers in PubMed, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.

  1. Pooled it
  2. Review
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

4 authors at 2 institutions in 2 countries.

Melinda K DuncanDepartment of Biological Sciences, University of Delaware, Newark, DE, 19716, USA. Electronic address: duncanm@udel.edu.
Alejandra DaruichOphthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University, Paris, France; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers, Paris, France.
Sophie ValleixINSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers, Paris, France; Service de Médecine Génomique des Maladies de Système et d'Organe, APHP Centre, Paris, Université de Paris Cité, Fédération de Génétique et de Médecine Génomique, Hôpital Cochin, 27 rue du Fbg St-Jacques, 75679, Paris, Cedex 14, France.
Dominique Bremond-GignacOphthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University, Paris, France; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers, Paris, France.
Délégation Paris 5 · FRUniversity of Delaware · US

Funding

The mechanisms underlying posterior capsular opacificationR01EY028597 · NEI · UNIVERSITY OF DELAWARE · PI DUNCAN, MELINDA K · 2018 to 2021
$1.5M
NEI NIH HHS R01 EY028597
6 · The paper itself

Abstract

Heterozygous mutation of PAX6 in humans leads to congenital aniridia (OMIM 106210) which is typified by congenital iris and foveal defects, and later onset glaucoma, aniridic keratopathy, and cataract. Mice heterozygous for Pax6 mutations phenocopy many aspects of aniridia including the iris defects, keratopathy and cataract, although Pax6 mutant mice have small lenses, a phenotype which is not typically reported in human aniridia, perhaps due to difficulties in measuring lens diameter during typical ophthalmic examinations as the lens periphery is shielded by the iris. In order to overcome this, records of patients diagnosed with congenital aniridia between April 2015 and May 2021 at the Necker-Enfants Malades Hospital, and genetically confirmed with a disease-causing PAX6 variant, were retrospectively reviewed for those with normal axial length whose iris defects allowed visualization of the lens margins and corneal diameter to allow calculation of a lens/corneal diameter ratio. This value was compared with values obtained from a cohort of patients with Sjödell grade IV oculocutaneous albinism type 1 (OCA1; OMIM 203100) which allowed visualization of the lens periphery via iris transillumination. This analysis revealed that patients with congenital aniridia had a significantly lower lens/corneal ratio when compared to those with albinism, suggesting that humans haploinsufficient for PAX6, like mice, rats, frogs, and zebrafish, exhibit reductions in lens size.

Indexed as

AniridiaCataractCorneal DiseasesAnimalsEye ProteinsHomeodomain ProteinsHumansMiceMutationPaired Box Transcription FactorsPAX6 Transcription FactorRatsRetrospective StudiesZebrafishEye ProteinsHomeodomain ProteinsPaired Box Transcription FactorsPAX6 protein, humanPAX6 Transcription Factor

Identifiers

PMID38056551
PMCPMC10843565
OpenAlexW4389342307

What Socratic holds

Textmetadata
LicenceTDM
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 Socratic graph.