Evidence map›Paper›PMID 35743034›Full record

ArticleInternational journal of molecular sciences2022

Large Benefit from Simple Things: High-Dose Vitamin A Improves

Vasily M Smirnov, Baptiste Wilmet, Marco Nassisi, Christel Condroyer, Aline Antonio, Camille Andrieu, Céline Devisme, Serge Sancho, José-Alain Sahel, Christina Zeitz and 1 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.0field-weighted citation impact, top 25% 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

5 citing papers in PubMed, 12 citations in OpenAlex.

  1. Review
  2. Review
  3. Observational
  4. Article
  5. 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

11 authors at 2 institutions in 2 countries.

Vasily M SmirnovSorbonne Université, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France.ORCID 0000-0003-4172-514X
Baptiste WilmetSorbonne Université, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France.
Marco NassisiSorbonne Université, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France.
Christel CondroyerSorbonne Université, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France.
Aline AntonioSorbonne Université, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France.
Camille AndrieuCentre Hospitalier National d'Ophtalmologie des Quinze-Vingts, National Rare Disease Center REFERET and INSERM-DGOS CIC 1423, F-75012 Paris, France.
Céline DevismeCentre Hospitalier National d'Ophtalmologie des Quinze-Vingts, National Rare Disease Center REFERET and INSERM-DGOS CIC 1423, F-75012 Paris, France.
Serge SanchoCentre Hospitalier National d'Ophtalmologie des Quinze-Vingts, National Rare Disease Center REFERET and INSERM-DGOS CIC 1423, F-75012 Paris, France.
José-Alain SahelSorbonne Université, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France.
Christina ZeitzSorbonne Université, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France.ORCID 0000-0002-3510-1712
Isabelle AudoSorbonne Université, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France.ORCID 0000-0003-0698-5309
Centre National de la Recherche Scientifique · FRInserm · FR

Funding

Foundation Fighting Blindness C-CMM-0907-0428-INSERM04; BR-GE-0619-0761-INSERM ; CD-CL-0619-0759-INSERMIHU FOReSIGHT ANR-18-IAHU-0001LABEX LIFESENSES ANR-11-IDEX-0004-0RHU-Light4deaf ANR-15-RHU-0001
6 · The paper itself

Abstract

Inherited retinal diseases (IRD) are a group of heterogeneous disorders, most of which lead to blindness with limited therapeutic options. Pathogenic variants in RBP4, coding for a major blood carrier of retinol, retinol-binding protein 4, are responsible for a peculiar form of IRD. The aim of this study was to investigate if retinal function of an RBP4-related IRD patient can be improved by retinol administration. Our patient presented a peculiar white-dot retinopathy, reminiscent of vitamin A deficient retinopathy. Using a customized next generation sequencing (NGS) IRD panel we discovered a novel loss-of-function homozygous pathogenic variant in RBP4: c.255G >A, p.(Trp85*). Western blotting revealed the absence of RBP4 protein in the patient’s serum. Blood retinol levels were undetectable. The patient was put on a high-dose oral retinol regimen (50,000 UI twice a week). Subjective symptoms and retinal function markedly and sustainably improved at 5-months and 1-year follow-up. Here we show that this novel IRD case can be treated by oral retinol administration.

Indexed as

Retinal DystrophiesVitamin AHumansRetinaRetinol-Binding Proteins, PlasmaRBP4 protein, humanRetinol-Binding Proteins, PlasmaVitamin Afundus albipunctatusinherited retinal degenerationRBP4retinol-binding proteinretinol treatment

Identifiers

PMID35743034
PMCPMC9223508
OpenAlexW4282836079

What OpenQuestion holds

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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.