Evidence map›Paper›PMID 33511521›Full record

ArticleDocumenta ophthalmologica. Advances in ophthalmology2021

Dark-adapted threshold and electroretinogram for diagnosis of Usher syndrome.

Lucia Ambrosio, Ronald M Hansen, Anne Moskowitz, Andrea Oza, Devon Barrett, Juliana Manganella, Genevieve Medina, Kosuke Kawai, Anne B Fulton, Margaret Kenna

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In one paragraph

Article in Documenta ophthalmologica. Advances in ophthalmology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 49% 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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. 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

10 authors at 2 institutions in 1 country.

Lucia AmbrosioDepartment of Ophthalmology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA. Lucia.ambrosio@childrens.harvard.edu.ORCID http://orcid.org/0000-0001-5488-8429
Ronald M HansenDepartment of Ophthalmology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA.
Anne MoskowitzDepartment of Ophthalmology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA.
Andrea OzaLaboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, 65 Landsdowne Street, Cambridge, MA, 02139, USA.
Devon BarrettDepartment of Otolaryngology and Communication Enhancement, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA.
Juliana ManganellaDepartment of Otolaryngology and Communication Enhancement, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA.
Genevieve MedinaDepartment of Otolaryngology and Communication Enhancement, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA.
Kosuke KawaiDepartment of Otolaryngology and Communication Enhancement, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA.
Anne B FultonDepartment of Ophthalmology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA.
Margaret KennaDepartment of Otolaryngology and Communication Enhancement, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA.
Boston Children's Hospital · USMass General Brigham · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeTo determine the utility of ophthalmology evaluation, dark-adapted threshold, and full-field electroretinogram for early detection of Usher syndrome in young patients with bilateral sensorineural hearing loss.

methodsWe identified 39 patients with secure genetic diagnoses of Usher Syndrome. Visual acuity, spherical equivalent, fundus appearance, dark-adapted threshold, and full-field electroretinogram results were summarized and compared to those in a group of healthy controls with normal hearing. In those Usher patients with repeated measures, regression analysis was done to evaluate for change in visual acuity and dark-adapted threshold with age. Spherical equivalent and full-field electroretinogram responses from dark- and light-adapted eyes were evaluated as a function of age.

resultsThe majority of initial visual acuity and spherical equivalent results were within normal limits for age. Visual acuity and dark-adapted threshold worsened significantly with age in Usher type 1 but not in Usher type 2. At initial test, full-field electroretinogram responses from dark- and light-adapted eyes were abnormal in 53% of patients. Remarkably, nearly half of our patients (17% of Usher type 1 and 30% of Usher type 2) would have been missed by tests of retinal function alone if evaluated before age 10.

conclusionsAlthough there is an association of abnormal dark-adapted threshold and full-field electroretinogram at young ages in Usher patients, it appears that a small but important proportion of patients would not be detected by tests of retinal function alone. Thus, genetic testing is needed to secure a diagnosis of Usher syndrome.

Indexed as

Usher SyndromesChildElectroretinographyHumansRetinaVisual AcuityVisual Field TestsDark-adapted visual thresholdFull-field electroretinogramSensorineural hearing lossUsher syndrome

Identifiers

PMID33511521
OpenAlexW3123501583

What OpenQuestion holds

Textmetadata
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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.