Evidence map›Paper›PMID 32927963›Full record

ArticleEuropean journal of ophthalmology2022

A mutation in

Jin Kyun Oh, Yan Nuzbrokh, Winston Lee, Jose Ronaldo Lima de Carvalho, Nan Kai Wang, Janet R Sparrow, Rando Allikmets, Stephen H Tsang

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of ophthalmology, 2022. 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. Cone Rod Homeobox (Ophthalmic genetics · 2025
    Review
  5. Pigmented paravenous chorioretinal atrophy: Updated scenario.European journal of ophthalmology · 2024
    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

8 authors.

Jin Kyun OhJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York, NY, USA.
Yan NuzbrokhJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York, NY, USA.ORCID https://orcid.org/0000-0003-0118-4756
Winston LeeDepartment of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA.
Jose Ronaldo Lima de CarvalhoJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York, NY, USA.
Nan Kai WangJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York, NY, USA.
Janet R SparrowDepartment of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA.
Rando AllikmetsDepartment of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA.
Stephen H TsangJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York, NY, USA.ORCID https://orcid.org/0000-0001-9082-2427

Funding

Tumor Biology and Microenvironment ProgramP30CA013696 · NCI · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI Parisa Tehranifar · 1985 to 2026
$115.3M
Instrumentation, Fabrication, and Design CoreP30EY019007 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Xin Zhang · 2010 to 2026
$12.9M
Therapeutic gene editing and multimodal imaging in juvenile macular degeneration R24EY028758 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI AUDO , ISABELLE, SPARROW, JANET RUTHE · 2020 to 2024
$10.9M
The Jackson Laboratory Center for Precision Genetics: From New Models to Novel TherapeuticsU54OD020351 · OD · JACKSON LABORATORY · PI LUTZ, CATHLEEN M · 2015 to 2019
$10.2M
Translational Gene Therapy for CNGB1 Retinitis PigmentosaR24EY027285 · NEI · MICHIGAN STATE UNIVERSITY · PI HAUSWIRTH, WILLIAM W, MICHALAKIS, STYLIANOS · 2018 to 2022
$8.6M
MEASURES OF HUMAN RECEPTOR AND POST RECEPTOR ACTIVITYR01EY009076 · NEI · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI BIRCH, DAVID G, HOOD, DONALD C. · 1991 to 2021
$8.3M
Toward mechanism- and gene-based therapies for retinal degenerationR01EY018213 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2008 to 2026
$6.6M
Gene Silencing and Gene Editing in PhototransductionR01EY024698 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2015 to 2026
$4.7M
Quantitative Fundus Autofluorescence in Retinal DisordersR01EY024091 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SPARROW, JANET RUTHE · 2014 to 2022
$3.4M
Precision medicine for ABCA4 disease: modifier allelesR01EY028203 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALLIKMETS, RANDO L · 2018 to 2021
$2.3M
Mechanistic Studies on Regenerative Medicine Approaches to Childhood BlindnessR01EY026682 · NEI · UNIVERSITY OF IOWA · PI BASSUK, ALEXANDER G, MAHAJAN, VINIT B · 2016 to 2019
$1.6M
Precision genome surgery in autologous stem cell transplantU01EY030580 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SPARROW, JANET RUTHE, TSANG, STEPHEN H · 2019 to 2020
$810k
NCI NIH HHS P30 CA013696NEI NIH HHS P30 EY019007NEI NIH HHS R01 EY009076NEI NIH HHS R01 EY018213NEI NIH HHS R01 EY024091NEI NIH HHS R01 EY024698NEI NIH HHS R01 EY026682NEI NIH HHS R01 EY028203NEI NIH HHS R24 EY027285NEI NIH HHS R24 EY028758NEI NIH HHS U01 EY030580NIA NIH HHS R21 AG050437NIH HHS U54 OD020351
6 · The paper itself

Abstract

introductionMutations in the cone-rod homeobox ( CASE DESCRIPTION: A 53-year-old man and his 48-year-old brother presented with a history of progressive vision loss and nyctalopia. Fundus examination revealed a bull's eye lesion with chorioretinal atrophy and intraretinal pigment migration, while spectral-domain optical coherence tomography (SD-OCT) demonstrated retinal thinning with outer retinal atrophy. On short-wavelength autofluorescence (SW-AF) imaging, an atypical paravenous pattern of atrophy with a surrounding hyperautofluorescent border was observed. Full-field electroretinogram (ffERG) revealed a rod-cone pattern of dysfunction. A heterozygous pathogenic variant, c.119G>A:p.(Arg40Gln), in the

conclusionThis case report broadens the currently known phenotypic presentations of

Indexed as

ChoroidRetinal DystrophiesAtrophyElectroretinographyHomeodomain ProteinsHumansMaleMiddle AgedMutationTomography, Optical CoherenceTrans-Activatorscone rod homeobox proteinHomeodomain ProteinsTrans-ActivatorsCRXInherited retinal dystrophypigmented paravenous retinochoroidal atrophyrod-cone dystrophy

Identifiers

PMID32927963
PMCPMC9119417

What OpenQuestion holds

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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.