Evidence map›Paper›PMID 36692456›Full record

ArticleTranslational vision science & technology2023

Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial.

Abraham A Mascio, Alejandro J Roman, Artur V Cideciyan, Rebecca Sheplock, Vivian Wu, Alexandra V Garafalo, Alexander Sumaroka, Sydney Pirkle, Susanne Kohl, Bernd Wissinger and 2 more

Open access · goldAbstract read
In one paragraph

Article in Translational vision science & technology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 34% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. 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

12 authors at 3 institutions in 3 countries.

Abraham A MascioScheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine University of Pennsylvania, Philadelphia, PA, USA.
Alejandro J RomanScheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine University of Pennsylvania, Philadelphia, PA, USA.
Artur V CideciyanScheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine University of Pennsylvania, Philadelphia, PA, USA.
Rebecca SheplockScheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine University of Pennsylvania, Philadelphia, PA, USA.
Vivian WuScheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine University of Pennsylvania, Philadelphia, PA, USA.
Alexandra V GarafaloScheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine University of Pennsylvania, Philadelphia, PA, USA.
Alexander SumarokaScheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine University of Pennsylvania, Philadelphia, PA, USA.
Sydney PirkleScheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine University of Pennsylvania, Philadelphia, PA, USA.
Susanne KohlMolecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.
Bernd WissingerMolecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.
Samuel G JacobsonScheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine University of Pennsylvania, Philadelphia, PA, USA.
John L BarburCentre for Applied Vision Research, School of Health Sciences, City, University of London, London, UK.
Penn Presbyterian Medical Center · USSTZ eyetrial · DECity, University of London · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Blue cone monochromacy (BCM) is an X-linked retinopathy due to mutations in the OPN1LW/OPN1MW gene cluster. Symptoms include reduced visual acuity and disturbed color vision. We studied BCM color vision to determine outcome measures for future clinical trials. Methods: Patients with BCM and normal-vision participants were examined with Farnsworth-Munsell (FM) arrangement tests and the Color Assessment and Diagnosis (CAD) test. A retrospective case series in 36 patients with BCM (ages 6-70) was performed with the FM D-15 test. A subset of six patients also had Roth-28 Hue and CAD tests. Results: All patients with BCM had abnormal results for D-15, Roth-28, and CAD tests. With D-15, there was protan-deutan confusion and no bimodal tendency. Roth-28 results reinforced that finding. There was symmetry in color vision metrics between the two eyes and coherence between sessions with the arrangement tests and CAD. Severe abnormalities in red-green sensitivity with CAD were expected. Unexpected were different levels of yellow-blue results with two patterns of abnormal thresholds: moderate elevation in two younger patients and severe elevation in four patients ≥35 years. Coefficients of repeatability and intersession means were tabulated for all test modalities. Conclusions: Given understanding of advantages, disadvantages, and complexities of interpretation of results, both an arrangement test and CAD should be useful monitors of color vision through a clinical trial in BCM. Translational Relevance: Our pilot studies in BCM of arrangement and CAD tests indicated both were clinically feasible and interpretable in the context of this cone gene disease.

Indexed as

Color VisionColor Vision DefectsAdolescentAdultAgedChildHumansMiddle AgedOutcome Assessment, Health CareRetrospective StudiesYoung Adult

Identifiers

PMID36692456
PMCPMC9896867
OpenAlexW4317866850

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.