Evidence map›Paper›PMID 32400513›Full record

ArticleJournal of the Optical Society of America. A, Optics, image science, and vision2020

Tritan color vision deficiency may be associated with an OPN1SW splicing defect and haploinsufficiency.

Maureen Neitz, Elise D Krekling, Lene A Hagen, Hilde R Pedersen, Jessica Rowlan, Rachel Barborek, Jay Neitz, Adam Crain, Rigmor C Baraas

Open access · greenAbstract read
In one paragraph

Article in Journal of the Optical Society of America. A, Optics, image science, and vision, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
0.3field-weighted citation impact, top 48% 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

6 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Review
  4. Factors affecting color vision: a systematic review.International journal of ophthalmology · 2026
    Review
  5. Review
  6. 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

9 authors at 2 institutions in 2 countries.

Maureen Neitz
Elise D Krekling
Lene A Hagen
Hilde R Pedersen
Jessica Rowlan
Rachel Barborek
Jay Neitz
Adam Crain
Rigmor C Baraas
University of Washington · USUniversity of South-Eastern Norway · NO

Funding

Vision Research CoreP30EY001730 · NEI · UNIVERSITY OF WASHINGTON · PI MAUREEN E NEITZ · 1985 to 2026
$23.5M
Role of a dual splicing and amino acid code in myopia, cone dysfunction and cone dystrophy associated with L/M opsin interchange mutationsR01EY028118 · NEI · UNIVERSITY OF WASHINGTON · PI NEITZ, MAUREEN E · 2018 to 2022
$2.2M
NEI NIH HHS P30 EY001730NEI NIH HHS R01 EY028118
6 · The paper itself

Abstract

Here we present evidence implicating disrupted RNA splicing as a potential cause of inherited tritan color vision. Initially we tested 51 subjects for color vision deficiencies. One made significant tritan errors; the others were classified as normal trichromats. The putative tritan subject was the only one of the 51 subjects found to be heterozygous for an OPN1SW gene mutation that disrupts RNA splicing in an in vitro assay. In order to gather further support for the role of the splicing mutation in tritan color vision, the putative tritan subject's mother and sister were examined. They also made tritan errors and had the same OPN1SW gene mutation.

Indexed as

HaploinsufficiencyColor VisionColor Vision DefectsHEK293 CellsHumansIntronsMutationRNA SplicingRod OpsinsRod Opsinsshort-wavelength opsin

Identifiers

PMID32400513
PMCPMC7254067
OpenAlexW2998977057

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.