Evidence map›Paper›PMID 32995707›Full record

ReviewTherapeutic advances in ophthalmology

Usher syndrome: clinical features, molecular genetics and advancing therapeutics.

Maria Toms, Waheeda Pagarkar, Mariya Moosajee

Open access · diamondAbstract readReview
In one paragraph

Review in Therapeutic advances in ophthalmology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
63citing papers in PubMed, 3 pooled it
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

63 citing papers in PubMed, 3 syntheses or guidelines pooled it, 109 citations in OpenAlex.

  1. Outcomes of cochlear implantation in Usher syndrome: a systematic review.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2024
    Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
  5. Limited Potential to Reverse Deafness Caused by Mutation of Myo7a.Journal of the Association for Research in Otolaryngology : JARO · 2026
    Article
  6. Article
  7. USH2A-Mutated Human Retinal Organoids Model Rod-Cone Dystrophy.Investigative ophthalmology & visual science · 2025
    Article
  8. Article
  9. Article
  10. Haploinsufficiency of Whrn Contributes to Progressive Sensorineural Hearing Loss in C57BL6 Mice.Journal of the Association for Research in Otolaryngology : JARO · 2025
    Article
  11. Review
  12. ZebrafishInternational journal of molecular sciences · 2025
    Article
  13. Article
  14. Circadian clock disruption promotes retinal photoreceptor degeneration.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025
    Article
  15. Review
  16. The Diverse Functions of the Calcium- and Integrin-Binding Protein Family.International journal of molecular sciences · 2025
    Review
  17. Long-term natural history of ellipsoid zone width inThe British journal of ophthalmology · 2025
    Article
  18. Article
  19. A Multi-Omics Analysis of a Mitophagy-Related Signature in Pan-Cancer.International journal of molecular sciences · 2025
    Article
  20. Identification of NovelHuman mutation · 2025
    Article

3 more citing papers are in PubMed but not listed here.

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

3 authors at 3 institutions in 1 country.

Maria TomsUCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK.ORCID https://orcid.org/0000-0002-0405-9208
Waheeda PagarkarGreat Ormond Street Hospital for Children NHS Foundation Trust, London, UK; University College London Hospitals NHS Foundation Trust, London, UK.
Mariya MoosajeeDevelopment, Ageing and Disease, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK.ORCID https://orcid.org/0000-0003-1688-5360
Moorfields Eye Hospital NHS Foundation Trust · GBThe Francis Crick Institute · GBUniversity College London Hospitals NHS Foundation Trust · GB

Funding

Wellcome Trust
6 · The paper itself

Abstract

Usher syndrome has three subtypes, each being clinically and genetically heterogeneous characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without vestibular dysfunction. It is the most common cause of deaf-blindness worldwide with a prevalence of between 4 and 17 in 100 000. To date, 10 causative genes have been identified for Usher syndrome, with

Indexed as

gene therapyinherited retinal diseaseinner earphotoreceptorretinaretinitis pigmentosasensorineural hearing losssensory hair cellUsher syndrome

Identifiers

PMID32995707
PMCPMC7502997
OpenAlexW3087479887

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.