Evidence map›Paper›PMID 35132964›Full record

ArticleJCI insight2022

The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention.

Dale Bryant, Valda Pauzuolyte, Neil J Ingham, Aara Patel, Waheeda Pagarkar, Lucy A Anderson, Katie E Smith, Dale A Moulding, Yeh C Leong, Daniyal J Jafree and 8 more

Open access · goldAbstract readVideo-Audio Media
PubMed Full text at PMC Publisher
In one paragraph

Article in JCI insight, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 1 pooled it
1.5field-weighted citation impact, top 21% 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

12 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.

  1. A Systematic Review of Genes Affecting Endocochlear Potential.Journal of the Association for Research in Otolaryngology : JARO · 2026
    Pooled it
  2. Review
  3. The Cochlear Lateral Wall as a Biological Battery: the Mechanisms Underlying KJournal of the Association for Research in Otolaryngology : JARO · 2026
    Review
  4. Hair cell loss - cause or consequence of hearing loss?Frontiers in cell and developmental biology · 2026
    Review
  5. Article
  6. Article
  7. Rescue of cochlear vascular pathology prevents sensory hair cell loss in Norrie disease.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  8. Review
  9. Review
  10. Article
  11. Review
  12. 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

18 authors at 4 institutions in 2 countries.

Dale BryantUCL Great Ormond Street Institute of Child Health, University College London, and NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
Valda PauzuolyteUCL Great Ormond Street Institute of Child Health, University College London, and NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
Neil J InghamWolfson Centre for Age-Related Diseases, King's College London, London, United Kingdom.
Aara PatelUCL Great Ormond Street Institute of Child Health, University College London, and NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
Waheeda PagarkarGreat Ormond Street Hospital, Great Ormond Street, London, United Kingdom.
Lucy A AndersonUCL Ear Institute, University College London, London, United Kingdom.
Katie E SmithUCL Ear Institute, University College London, London, United Kingdom.
Dale A MouldingUCL Great Ormond Street Institute of Child Health, University College London, and NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
Yeh C LeongUCL Great Ormond Street Institute of Child Health, University College London, and NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
Daniyal J JafreeUCL Great Ormond Street Institute of Child Health, University College London, and NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
David A LongUCL Great Ormond Street Institute of Child Health, University College London, and NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
Amina Al-YassinUCL Great Ormond Street Institute of Child Health, University College London, and NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
Karen P SteelWolfson Centre for Age-Related Diseases, King's College London, London, United Kingdom.
Daniel J JaggerUCL Ear Institute, University College London, London, United Kingdom.
Andrew ForgeUCL Ear Institute, University College London, London, United Kingdom.
Wolfgang BergerInstitute of Medical Molecular Genetics, University of Zürich, Schlieren, Switzerland.
Jane C SowdenUCL Great Ormond Street Institute of Child Health, University College London, and NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
Maria Bitner-GlindziczUCL Great Ormond Street Institute of Child Health, University College London, and NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
Great Ormond Street Hospital · GBUniversity College London · GBKing's College London · GBUniversity of Zurich · CH

Funding

Department of HealthMedical Research Council G0300212Medical Research Council MC_QA137918Medical Research Council MR/P018629/1
6 · The paper itself

Abstract

Norrie disease is caused by mutation of the NDP gene, presenting as congenital blindness followed by later onset of hearing loss. Protecting patients from hearing loss is critical for maintaining their quality of life. This study aimed to understand the onset of pathology in cochlear structure and function. By investigating patients and juvenile Ndp-mutant mice, we elucidated the sequence of onset of physiological changes (in auditory brainstem responses, distortion product otoacoustic emissions, endocochlear potential, blood-labyrinth barrier integrity) and determined the cellular, histological, and ultrastructural events leading to hearing loss. We found that cochlear vascular pathology occurs earlier than previously reported and precedes sensorineural hearing loss. The work defines a disease mechanism whereby early malformation of the cochlear microvasculature precedes loss of vessel integrity and decline of endocochlear potential, leading to hearing loss and hair cell death while sparing spiral ganglion cells. This provides essential information on events defining the optimal therapeutic window and indicates that early intervention is needed. In an era of advancing gene therapy and small-molecule technologies, this study establishes Ndp-mutant mice as a platform to test such interventions and has important implications for understanding the progression of hearing loss in Norrie disease.

Indexed as

Disease ManagementForecastingAdolescentAdultAnimalsBlindnessChildChild, PreschoolDisease Models, AnimalEvoked Potentials, Auditory, Brain StemFemaleFollow-Up StudiesGenetic Diseases, X-LinkedHearingHearing Loss, SensorineuralHumansDevelopmentEndothelial cellsGenetic diseasesMouse modelsOtology

Identifiers

PMID35132964
PMCPMC8855802
OpenAlexW4210632101

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.