Evidence map›Paper›PMID 40319023›Full record

SynthesisNature communications2025

Rare genetic variation in PTPRB is associated with central serous chorioretinopathy, varicose veins and glaucoma.

Joel T Rämö, Bryan R Gorman, Lu-Chen Weng, Sean J Jurgens, Panisa Singhanetr, Marisa G Tieger, Elon HC van Dijk, Christopher W Halladay, Xin Wang, Blake M Hauser and 23 more

Abstract readMeta-Analysis
In one paragraph

Synthesis in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

5 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Efficacy and safety of intravitreal faricimab for choroidal neovascularization secondary to central serous chorioretinopathy - a multicentre study.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

33 authors.

Joel T Rämö *Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.ORCID 0000-0002-6429-5149
Bryan R Gorman *Center for Data and Computational Sciences (C-DACS), VA Cooperative Studies Program, VA Boston Healthcare System, Boston, MA, USA.ORCID 0000-0002-4239-4672
Lu-Chen Weng *Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Sean J JurgensCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-1605-9782
Panisa SinghanetrMassachusetts Eye and Ear, Boston, MA, USA.
Marisa G TiegerNew England Eye Center, Tufts Medical Center, Boston, MA, USA.
Elon HC van DijkDepartment of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.
Christopher W HalladayCenter of Innovation in Long Term Services and Supports, Providence VA Medical Center, Providence, RI, USA.
Xin WangCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-0322-8970
Blake M HauserMassachusetts Eye and Ear, Boston, MA, USA.
Soo Hyun KimMassachusetts Eye and Ear, Boston, MA, USA.ORCID 0000-0003-4037-6988
Joost BrinksDepartment of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.ORCID 0000-0002-2649-8199
Seung Hoan ChoiDepartment of Biostatistics, Boston University, Boston, MA, USA.
Yuyang LuoMassachusetts Eye and Ear, Boston, MA, USA.
FinnGen
VA Million Veteran Program
Saiju PyarajanVA Cooperative Studies Program, VA Boston Healthcare System, Boston, MA, USA.ORCID 0000-0002-9047-3762
Cari L NealonEye Clinic, VA Northeast Ohio Healthcare System, Cleveland, OH, USA.ORCID 0000-0002-6997-2743
Michael B GorinDepartment of Ophthalmology, David Geffen School of Medicine, Stein Eye Institute, University of California, Los Angeles, Los Angeles, CA, USA.ORCID 0000-0001-9498-7982
Wen-Chih WuSection of Cardiology, Medical Service, VA Providence Healthcare System, Providence, RI, USA.ORCID 0000-0002-2834-2024
Scott A AnthonyEye Clinic, VA Northeast Ohio Healthcare System, Cleveland, OH, USA.
David P RonconeEye Clinic, VA Northeast Ohio Healthcare System, Cleveland, OH, USA.
Lucia SobrinHarvard Medical School Department of Ophthalmology, Massachusetts Eye and Ear, Boston, MA, USA.
Kai KaarnirantaDepartment of Ophthalmology, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland.
Suzanne YzerDepartment of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
Aarno PalotieInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.ORCID 0000-0002-2527-5874
Neal S PeacheyResearch Service, VA Northeast Ohio Healthcare System, Cleveland, OH, USA.ORCID 0000-0002-4419-7226
Joni A TurunenFolkhälsan Research Center, Biomedicum, Helsinki, Finland.ORCID 0000-0002-9569-9146
Camiel JF BoonDepartment of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.
Patrick T EllinorCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Sudha K IyengarResearch Service, VA Northeast Ohio Healthcare System, Cleveland, OH, USA.ORCID 0000-0001-7488-250X
Mark J DalyInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Elizabeth J RossinHarvard Medical School Department of Ophthalmology, Massachusetts Eye and Ear, Boston, MA, USA. elizabeth_rossin@meei.harvard.edu.ORCID 0000-0002-0052-9575

Funding

Technology to Empower Changes in Health (TECH) Network Participant Technologies CenterU24OD023176 · OD · SCRIPPS RESEARCH INSTITUTE, THE · PI TOPOL, ERIC JEFFREY · 2016 to 2022
$204.7M
Precision Medicine Initiative Cohort Program BiobankU24OD023121 · OD · MAYO CLINIC ROCHESTER · PI CEKANOVA, MARIA, CICEK, MINE · 2016 to 2024
$185.5M
Enhancing All of Us Data Resources for Nutrition Precision Health: the All of Us Data and Research CenterU2COD023196 · OD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GLAZER, DAVID, HARRIS, PAUL A. · 2016 to 2022
$143.7M
Adaptive Platform for Personalized EngagementU24OD023163 · OD · VIGNET, INC. · PI JAIN, PRADUMAN · 2017 to 2020
$102.6M
University of Arizona-Banner Health All of Us Research Program OT2OD026549 · OD · UNIVERSITY OF ARIZONA · PI MORENO, FRANCISCO A, REIMAN, ERIC MICHAEL · 2018 to 2023
$78.9M
California Precision Medicine Research Program ConsortiumOT2OD026552 · OD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ANTON-CULVER, HODA A, OHNO-MACHADO, LUCILA · 2018 to 2023
$73.4M
All of Us PennsylvaniaOT2OD026554 · OD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI REIS, STEVEN E, VISWESWARAN, SHYAM · 2018 to 2023
$72.1M
New York City Consortium for Precision MedicineOT2OD026556 · OD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BIER, LOUISE E, GHARAVI, ALI G · 2018 to 2023
$67.3M
SouthEast Enrollment Center (SEEC) OT2OD026551 · OD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI CARRASQUILLO, OLVEEN, COLON, VIVIAN · 2018 to 2023
$62.8M
Southern All of Us NetworkOT2OD026548 · OD · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI FOUAD, MONA N., KORF, BRUCE R · 2018 to 2023
$60.5M
Illinois Precision Medicine Consortium OT2OD026557 · OD · NORTHWESTERN UNIVERSITY AT CHICAGO · PI AHSAN, HABIBUL, ARGOS, MARIA · 2018 to 2023
$60.5M
The New England Precision Medicine Consortium of the All of Us Research ProgramOT2OD026553 · OD · MASSACHUSETTS GENERAL HOSPITAL · PI CLARK, CHERYL RENEE, KARLSON, ELIZABETH W · 2018 to 2023
$58.8M
BLRD VA I01 BX003364BLRD VA I01 BX004557BLRD VA IK6 BX005233NEI NIH HHS K12 EY016335NEI NIH HHS K23 EY035342NEI NIH HHS P30 EY011373NEI NIH HHS P30 EY025585NIH HHS OT2 OD023205NIH HHS OT2 OD023206NIH HHS OT2 OD025276NIH HHS OT2 OD025277NIH HHS OT2 OD025315NIH HHS OT2 OD025337NIH HHS OT2 OD026548NIH HHS OT2 OD026549NIH HHS OT2 OD026550NIH HHS OT2 OD026551NIH HHS OT2 OD026552NIH HHS OT2 OD026553NIH HHS OT2 OD026554NIH HHS OT2 OD026555NIH HHS OT2 OD026556NIH HHS OT2 OD026557NIH HHS U24 OD023121NIH HHS U24 OD023163NIH HHS U24 OD023176NIH HHS U2C OD023196U.S. Department of Health & Human Services | National Institutes of Health (NIH) 1K23EY035342U.S. Department of Health & Human Services | National Institutes of Health (NIH) K12EY016335Wellcome Trust
6 · The paper itself

Abstract

Central serous chorioretinopathy is an eye disease characterized by fluid buildup under the central retina whose etiology is not well understood. Abnormal choroidal veins in central serous chorioretinopathy patients have been shown to have similarities with varicose veins. To identify potential mechanisms, we analyzed genotype data from 1,477 patients and 455,449 controls in FinnGen. We identified an association for a low-frequency (allele frequency = 0.5%) missense variant (rs113791087) in PTPRB, the gene encoding vascular endothelial protein tyrosine phosphatase (odds ratio=2.85, P = 4.5 × 10

Indexed as

Central Serous ChorioretinopathyGlaucomaReceptor-Like Protein Tyrosine Phosphatases, Class 3Varicose VeinsAdultAgedCase-Control StudiesFemaleGene FrequencyGenetic Predisposition to DiseaseGenotypeHumansMaleMiddle AgedMutation, MissensePolymorphism, Single NucleotideReceptor-Like Protein Tyrosine Phosphatases, Class 3

Identifiers

PMID40319023
PMCPMC12049426

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.