Evidence map›Paper›PMID 37422204›Full record

ArticleAmerican journal of ophthalmology2023

Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome.

Malena Daich Varela, Shiao Wei Wong, Gulunay Kiray, Patricio G Schlottmann, Gavin Arno, Amjaad N Abu Shams, Omar A Mahroo, Andrew R Webster, Alaa AlTalbishi, Michel Michaelides

Open access · hybridAbstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of ophthalmology, 2023. 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
1.2field-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

7 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Review
  6. The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.International journal of molecular sciences · 2025
    Review
  7. 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

10 authors at 4 institutions in 3 countries.

Malena Daich VarelaFrom the Moorfields Eye Hospital (M.D.V., S.W.W., G.K., G.A., O.A.M., A.R.W., M.M.), London, UK; UCL Institute of Ophthalmology, University College London (M.D.V., G.A., O.A.M., A.R.W., M.M.), London, UK.
Shiao Wei WongFrom the Moorfields Eye Hospital (M.D.V., S.W.W., G.K., G.A., O.A.M., A.R.W., M.M.), London, UK.
Gulunay KirayFrom the Moorfields Eye Hospital (M.D.V., S.W.W., G.K., G.A., O.A.M., A.R.W., M.M.), London, UK.
Patricio G SchlottmannOrganizacion Medica de Investigacion, Buenos Aires, Argentina (P.G.S.).
Gavin ArnoFrom the Moorfields Eye Hospital (M.D.V., S.W.W., G.K., G.A., O.A.M., A.R.W., M.M.), London, UK; UCL Institute of Ophthalmology, University College London (M.D.V., G.A., O.A.M., A.R.W., M.M.), London, UK.
Amjaad N Abu ShamsSt John of Jerusalem Eye Hospital Group, Jerusalem, Palestine (A.N.A.S., A.A.T.).
Omar A MahrooFrom the Moorfields Eye Hospital (M.D.V., S.W.W., G.K., G.A., O.A.M., A.R.W., M.M.), London, UK; UCL Institute of Ophthalmology, University College London (M.D.V., G.A., O.A.M., A.R.W., M.M.), London, UK.
Andrew R WebsterFrom the Moorfields Eye Hospital (M.D.V., S.W.W., G.K., G.A., O.A.M., A.R.W., M.M.), London, UK; UCL Institute of Ophthalmology, University College London (M.D.V., G.A., O.A.M., A.R.W., M.M.), London, UK.
Alaa AlTalbishiSt John of Jerusalem Eye Hospital Group, Jerusalem, Palestine (A.N.A.S., A.A.T.).
Michel MichaelidesFrom the Moorfields Eye Hospital (M.D.V., S.W.W., G.K., G.A., O.A.M., A.R.W., M.M.), London, UK; UCL Institute of Ophthalmology, University College London (M.D.V., G.A., O.A.M., A.R.W., M.M.), London, UK. Electronic address: michel.michaelides@ucl.ac.uk.
Moorfields Eye Hospital NHS Foundation Trust · GBMoorfields Eye Hospital · GBSt John of Jerusalem Eye Hospital Group · ILCentro de Educación Médica e Investigaciones Clínicas Norberto Quirno · AR

Funding

Wellcome Trust
6 · The paper itself

Abstract

purposeTo present the clinical characteristics, retinal features, natural history, and genetics of ADGRV1-Usher syndrome (USH).

designMulticenter international retrospective cohort study.

methodsClinical notes, hearing loss history, multimodal retinal imaging, and molecular diagnosis were reviewed. Thirty patients (28 families) with USH type 2 and disease-causing variants in ADGRV1 were identified. Visual function, retinal imaging, and genetics were evaluated and correlated, with retinal features also compared with those of the commonest cause of USH type 2, USH2A-USH.

resultsThe mean age at the first visit was 38.6 ± 12.0 years (range: 19-74 years), and the mean follow-up time was 9.0 ± 7.7 years. Hearing loss was reported in the first decade of life by all patients, 3 (10%) described progressive loss, and 93% had moderate-severe impairment. Visual symptom onset was at 17.0 ± 7.7 years of age (range: 6-32 years), with 13 patients noticing problems before the age of 16. At baseline, 90% of patients had no or mild visual impairment. The most frequent retinal features were a hyperautofluorescent ring at the posterior pole (70%), perimacular patches of decreased autofluorescence (59%), and mild-moderate peripheral bone-spicule-like deposits (63%). Twenty-six (53%) variants were previously unreported, 19 families (68%) had double-null genotypes, and 9 were not-double-null. Longitudinal analysis showed significant differences between baseline and follow-up central macular thickness (-1.25 µm/y), outer nuclear layer thickness (-1.19 µm/y), and ellipsoid zone width (-40.9 µm/y). The rate of visual acuity decline was 0.02 LogMAR (1 letter)/y, and the rate of constriction of the hyperautofluorescent ring was 0.23 mm

conclusionsADGRV1-USH is characterized by early-onset, usually non-progressive, mild-to-severe hearing loss and generally good central vision until late adulthood. Perimacular atrophic patches and relatively retained ellipsoid zone and central macular thickness in later adulthood are more often seen in ADGRV1-USH than in USH2A-USH.

Indexed as

Usher SyndromesAdolescentAdultAgedChildHumansMiddle AgedMutationRetinaRetrospective StudiesYoung Adult

Identifiers

PMID37422204
PMCPMC11139646
OpenAlexW4383315845

What OpenQuestion holds

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LicenceCC BY
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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.