Evidence map›Paper›PMID 38922562›Full record

ArticleDocumenta ophthalmologica. Advances in ophthalmology2024

Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.

Vasily M Smirnov, Eulalie Lasseaux, Vincent Michaud, Cécile Courdier, Isabelle Meunier, Benoit Arveiler, Sabine Defoort-Dhellemmes

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In one paragraph

Article in Documenta ophthalmologica. Advances in ophthalmology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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. Review
  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

7 authors.

Vasily M SmirnovService d'Exploration de la Vision et de Neuro-Ophtalmologie, Hôpital Roger Salengro, CHU de Lille, 59000, Lille, France. vasily.smirnov@chu-lille.fr.ORCID 0000-0003-1629-4579
Eulalie LasseauxService de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
Vincent MichaudService de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
Cécile CourdierService de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
Isabelle MeunierNational Reference Centre for Inherited Sensory Diseases, Sensgene Care Network, ERN-EYE Network, Montpellier University Hospital, University of Montpellier, 34295, Montpellier, France.
Benoit ArveilerService de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
Sabine Defoort-DhellemmesService d'Exploration de la Vision et de Neuro-Ophtalmologie, Hôpital Roger Salengro, CHU de Lille, 59000, Lille, France.

Funding

Université de Bordeaux Apithem NCT04495218
6 · The paper itself

Abstract

introductionInfantile nystagmus and foveal hypoplasia associated with AHR gene defects is a newly recognized and rare disorder. Our aim was to present a patient with a novel biallelic AHR pathogenic variant with electrophysiological evidence of chiasmal misrouting. MATERIALS AND

methodsComplete ocular examination, fundus imaging, visual evoked potentials (VEP) and full-field electroretinography were performed at initial presentation. Genetic testing was performed by whole exome sequencing.

resultsFemale patient of 6 years old presented a reduced best corrected visual acuity, an infantile nystagmus and a grade III typical foveal hypoplasia without ocular hypopigmentation. A crossed asymmetry was discovered on pattern onset/offset VEP. Genetic testing put in evidence a novel homozygous variant in AHR: c.2242del, p. (Gln748Lysfs

conclusionAHR gene defects could be associated with infantile nystagmus, foveal hypoplasia and chiasmal misrouting.

Indexed as

ElectroretinographyEvoked Potentials, VisualFovea CentralisNystagmus, CongenitalBasic Helix-Loop-Helix ProteinsChildFemaleHumansReceptors, Aryl HydrocarbonRepressor ProteinsTomography, Optical CoherenceVisual AcuityAHR protein, humanBasic Helix-Loop-Helix ProteinsReceptors, Aryl HydrocarbonRepressor ProteinsAHR geneCrossed VEP asymmetryFoveal hypoplasiaInfantile nystagmus

Identifiers

PMID38922562

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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.