Evidence map›Paper›PMID 36247817›Full record

ArticleOphthalmology science2021

Retinitis Punctata Albescens and

Béatrice Bocquet, Hicham El Alami Trebki, Anne Françoise Roux, Gilles Labesse, Philippe Brabet, Carl Arndt, Xavier Zanlonghi, Sabine Defoort-Dhellemmes, Dalil Hamroun, Céline Boulicot-Séguin and 7 more

Open access · goldAbstract read
In one paragraph

Article in Ophthalmology science, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.4field-weighted citation impact, top 41% 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

7 citing papers in PubMed, 9 citations in OpenAlex.

  1. Trial
  2. Article
  3. Article
  4. Germline Disruption of Retinal Pigment Epithelium-Expressed Zebrafish rlbp1bFASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025
    Article
  5. Article
  6. Article
  7. The Role of Vitamin A in Retinal Diseases.International journal of molecular sciences · 2022
    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

17 authors at 7 institutions in 1 country.

Béatrice BocquetNational Reference Centre for Inherited Sensory Diseases, Univ. Montpellier, Montpellier University Hospital, Montpellier, France, and Sensgene Care Network, ERN-EYE Network, France.
Hicham El Alami TrebkiNational Reference Centre for Inherited Sensory Diseases, Univ. Montpellier, Montpellier University Hospital, Montpellier, France, and Sensgene Care Network, ERN-EYE Network, France.
Anne Françoise RouxInstitute for Neurosciences of Montpellier (INM), Univ. Montpellier, INSERM, Montpellier, France.
Gilles LabesseCentre for Structural Biology, Univ. Montpellier, INSERM, CNRS, Montpellier, France.
Philippe BrabetInstitute for Neurosciences of Montpellier (INM), Univ. Montpellier, INSERM, Montpellier, France.
Carl ArndtDepartment of Ophthalmology, University Hospital, Reims, France.
Xavier ZanlonghiJules Verne Clinic, Nantes, France, and Sensgene Care Network, France.
Sabine Defoort-DhellemmesDepartment of Visual Exploration and Neuro-Opthalmology, Robert Salengro Hospital, Lille, France, and Sensgene Care Network, France.
Dalil HamrounDepartment of Research and Innovation, Univ. Montpellier, Montpellier University Hospital, Montpellier France.
Céline Boulicot-SéguinDepartment of Ophthalmology, Avignon Hospital Centre, Avignon, France.
Léopoldine LequeuxDepartment of Ophthalmology, Rive Gauche Clinic, Toulouse, France.
Marie Christine PicotClinical Investigation Center, Clinical Research and Epidemiology Unit, Montpellier, France.
Hélèna HuguetClinical Investigation Center, Clinical Research and Epidemiology Unit, Montpellier, France.
Isabelle AudoSorbonne University, INSERM, CNRS, Vision Institute, Paris, France CHNO des Quinze-Vingts, INSERM-DGOS CIC 1423, Paris, France and Sensgene Care Network, ERN-EYE Network, France.
Claire Marie DhaenensUniversité de Lille, Inserm, Lille University Hospital, U1172-LilNCog-Lille Neuroscience and Cognition, Lille, France.
Vasiliki KalatzisInstitute for Neurosciences of Montpellier (INM), Univ. Montpellier, INSERM, Montpellier, France.
Isabelle MeunierNational Reference Centre for Inherited Sensory Diseases, Univ. Montpellier, Montpellier University Hospital, Montpellier, France, and Sensgene Care Network, ERN-EYE Network, France.
Inserm · FRCentre National de la Recherche Scientifique · FRNeuropsychiatrie : Recherche Epidemiologique et Clinique · FRUniversité de Montpellier · FRCentre Hospitalier Universitaire de Reims · FRClinique Jules Verne · FRClinique Pasteur · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: To identify relevant criteria for gene therapy based on clinical and genetic characteristics of rod-cone dystrophy associated with Design: Retrospective cohort study. Participants: Patients with pathogenic variants in Methods: Clinical, multimodal imaging, and genetic findings were reviewed. Main Outcome Measures: Age of onset; visual acuity; ellipsoid line length; nasal, temporal, and foveal retinal thickness; and pathogenic variants and related phenotypes, including Newfoundland rod-cone and Bothnia dystrophies (NFRCDs), were reappraised. Results: Twenty-one patients (15 families) were included. The most frequent form was NFRCD with 12 patients (8 families) homozygous for the recurrent deletion of exons 7 through 9 in Conclusions: The eligibility for

Indexed as

BD, Bothnia dystrophyBothnia dystrophyCRALBPCRALBP, cellular retinaldehyde-binding proteinEZ, ellipsoid zonegene therapyGVF, Goldmann visual fieldIRD, inherited retinal dystrophyIZ, interdigitation zoneNewfoundland rod–cone dystrophyNFRCD, Newfoundland rod–cone dystrophyNMD, nonsense-mediated mRNA decayRCD, rod–cone dystrophyretinitis punctata albescensRLBP1RPA, retinitis punctata albescensRPE, retinal pigment epitheliumSD, spectral-domainspectral-domain OCTvariant classificationvisual cyclewhite dots

Identifiers

PMID36247817
PMCPMC9559097
OpenAlexW3194746270

What OpenQuestion 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 OpenQuestion graph.