Evidence map›Paper›PMID 37001420›Full record

ReviewVision research2023

Blue cone monochromacy and gene therapy.

Emily R Sechrest, Kathryn Chmelik, Wendy D Tan, Wen-Tao Deng

Open access · greenAbstract readReview
In one paragraph

Review in Vision research, 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
2.3field-weighted citation impact, top 12% 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, 15 citations in OpenAlex.

  1. Gene therapy rescues cone function inMolecular therapy. Advances · 2026
    Article
  2. Review
  3. Optical and Visual Diet in Myopia.Investigative ophthalmology & visual science · 2025
    Review
  4. Review
  5. Article
  6. Article
  7. 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

4 authors at 1 institution in 1 country.

Emily R SechrestDepartment of Ophthalmology and Visual Sciences, West Virginia University, Morgantown, WV 26505, United States.
Kathryn ChmelikDepartment of Ophthalmology and Visual Sciences, West Virginia University, Morgantown, WV 26505, United States; Department of Biochemistry, West Virginia University, Morgantown, WV 26505, United States.
Wendy D TanDepartment of Ophthalmology and Visual Sciences, West Virginia University, Morgantown, WV 26505, United States.
Wen-Tao DengDepartment of Ophthalmology and Visual Sciences, West Virginia University, Morgantown, WV 26505, United States; Department of Biochemistry, West Virginia University, Morgantown, WV 26505, United States. Electronic address: wen.deng@hsc.wvu.edu.
West Virginia University · US

Funding

VS-CoBRE Administrative CoreP20GM144230 · NIGMS · WEST VIRGINIA UNIVERSITY · PI Visvanathan Ramamurthy · 2022 to 2026
$13.9M
Disease mechanisms of cone opsin mutants and treatment strategiesR01EY030056 · NEI · WEST VIRGINIA UNIVERSITY · PI DENG, WEN-TAO · 2019 to 2023
$1.9M
NEI NIH HHS R01 EY030056NIGMS NIH HHS P20 GM144230
6 · The paper itself

Abstract

Blue cone monochromacy (BCM) is a congenital vision disorder characterized by complete loss or severely reduced long- and middle-wavelength cone function, caused by mutations in the OPN1LW/OPN1MW gene cluster on the X-chromosome. BCM patients typically suffer from poor visual acuity, severely impaired color discrimination, myopia, and nystagmus. In this review, we cover the genetic causes of BCM, clinical features of BCM patients, genetic testing, and clinical outcome measurements for future BCM clinical trials. However, our emphasis is on detailing the animal models for BCM and gene therapy using adeno-associated vectors (AAV). We describe two mouse models resembling the two most common causes of BCM, current progress in proof-of-concept studies to treat BCM with deletion mutations, the challenges we face, and future directions.

Indexed as

Color Vision DefectsAnimalsGenetic TherapyMiceMutationRetinal Cone Photoreceptor CellsRod OpsinsRod OpsinsAAVBlue cone monochromacyCone dystrophyCone opsinGene therapyOPN1LWOPN1MWOpsin knockout mice

Identifiers

PMID37001420
PMCPMC10182257
OpenAlexW4361195668

What OpenQuestion holds

Textmetadata
LicenceTDM
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.