Evidence map›Paper›PMID 36280537›Full record

ReviewProgress in retinal and eye research2023

Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.

Alejandra Daruich, Melinda Duncan, Matthieu P Robert, Neil Lagali, Elena V Semina, Daniel Aberdam, Stefano Ferrari, Vito Romano, Cyril Burin des Roziers, Rabia Benkortebi and 7 more

Open access · hybridAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Progress in retinal and eye research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed
4.5field-weighted citation impact, top 4% 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

34 citing papers in PubMed, 55 citations in OpenAlex.

  1. Article
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  4. Article
  5. Article
  6. Review
  7. Article
  8. Cartwheel cataract, a specific sign of PAX6 -related aniridia.Journal of cataract and refractive surgery · 2026
    Article
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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

17 authors at 10 institutions in 5 countries.

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.
Melinda DuncanDepartment of Biological Sciences, University of Delaware, Newark, DE, USA.
Matthieu P RobertOphthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University, Paris, France; Borelli Centre, UMR 9010, CNRS-SSA-ENS Paris Saclay-Paris Cité University, Paris, France.
Neil LagaliDivision of Ophthalmology, Department of Biomedical and Clinical Sciences, Faculty of Medicine, Linköping University, 581 83, Linköping, Sweden; Department of Ophthalmology, Sørlandet Hospital Arendal, Arendal, Norway.
Elena V SeminaDepartment of Pediatrics, Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI, 53226, USA.
Daniel AberdamINSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers, Paris, France.
Stefano FerrariFondazione Banca degli Occhi del Veneto, Via Paccagnella 11, Venice, Italy.
Vito RomanoDepartment of Medical and Surgical Specialties, Radiolological Sciences, and Public Health, Ophthalmology Clinic, University of Brescia, Italy.
Cyril Burin des RoziersINSERM, 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 Université de Paris, Fédération de Génétique et de Médecine Génomique Hôpital Cochin, 27 rue du Fbg St-Jacques, 75679, Paris Cedex 14, France.
Rabia BenkortebiOphthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University, Paris, France.
Nathalie De VergnesOphthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University, Paris, France.
Michel PolakPediatric Endocrinology, Gynecology and Diabetology, Hôpital Universitaire Necker Enfants Malades, AP-HP, Paris Cité University, INSERM U1016, Institut IMAGINE, France.
Frederic ChiambarettaDepartment of Ophthalmology, CHU Gabriel Monpied, Clermont-Ferrand, France.
Ken K NischalDivision of Pediatric Ophthalmology, Strabismus, and Adult Motility, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA; UPMC Eye Center, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Francine Behar-CohenINSERM, 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 Université de Paris, 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. Electronic address: dominique.bremond@aphp.fr.
Inserm · FRDélégation Paris 5 · FRUniversité Paris Cité · FRCentre Hospitalier Universitaire de Clermont-Ferrand · FRChildren's Hospital of Pittsburgh · USChildren's Hospital of Wisconsin · USLinköping University · SEUniversity of Brescia · ITUniversity of Delaware · USVeneto Eye Bank Foundation · IT

Funding

Molecular Mechanisms of Axenfeld-Rieger SyndromeR01EY015518 · NEI · MEDICAL COLLEGE OF WISCONSIN · PI Elena V Semina · 2005 to 2026
$5.6M
The mechanisms underlying posterior capsular opacificationR01EY028597 · NEI · UNIVERSITY OF DELAWARE · PI DUNCAN, MELINDA K · 2018 to 2021
$1.5M
NEI NIH HHS R01 EY015518NEI NIH HHS R01 EY028597
6 · The paper itself

Abstract

Congenital PAX6-aniridia, initially characterized by the absence of the iris, has progressively been shown to be associated with other developmental ocular abnormalities and systemic features making congenital aniridia a complex syndromic disorder rather than a simple isolated disease of the iris. Moreover, foveal hypoplasia is now recognized as a more frequent feature than complete iris hypoplasia and a major visual prognosis determinant, reversing the classical clinical picture of this disease. Conversely, iris malformation is also a feature of various anterior segment dysgenesis disorders caused by PAX6-related developmental genes, adding a level of genetic complexity for accurate molecular diagnosis of aniridia. Therefore, the clinical recognition and differential genetic diagnosis of PAX6-related aniridia has been revealed to be much more challenging than initially thought, and still remains under-investigated. Here, we update specific clinical features of aniridia, with emphasis on their genotype correlations, as well as provide new knowledge regarding the PAX6 gene and its mutational spectrum, and highlight the beneficial utility of clinically implementing targeted Next-Generation Sequencing combined with Whole-Genome Sequencing to increase the genetic diagnostic yield of aniridia. We also present new molecular mechanisms underlying aniridia and aniridia-like phenotypes. Finally, we discuss the appropriate medical and surgical management of aniridic eyes, as well as innovative therapeutic options. Altogether, these combined clinical-genetic approaches will help to accelerate time to diagnosis, provide better determination of the disease prognosis and management, and confirm eligibility for future clinical trials or genetic-specific therapies.

Indexed as

AniridiaEye AbnormalitiesEye ProteinsHumansMutationPAX6 Transcription FactorPhenotypeEye ProteinsPAX6 Transcription FactorCongenital aniridiaFoveal hypoplasiaGene therapyNext-generation sequencingPAX6Whole-genome sequencing

Identifiers

PMID36280537
PMCPMC11062406
OpenAlexW4307141303

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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.