Article in Ophthalmic genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 43% 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
1 citing paper in PubMed, 2 citations in OpenAlex.
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
7 authors at 3 institutions in 2 countries.
Pei-Kang LiuDepartment of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University, New York, New York, USA.
Joseph RyuDepartment of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University, New York, New York, USA.
Lung-Kun YehDepartment of Ophthalmology, Chang Gung Memorial Hospital, Linkou, Taiwan.
Kuan-Jen ChenDepartment of Ophthalmology, Chang Gung Memorial Hospital, Linkou, Taiwan.ORCID 0000-0002-4994-8391
Stephen H TsangDepartment of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University, New York, New York, USA.
Laura LiuDepartment of Ophthalmology, Chang Gung Memorial Hospital, Linkou, Taiwan.
Nan-Kai WangDepartment of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University, New York, New York, USA.ORCID 0000-0002-6277-9879
Chang Gung University · TWColumbia University · USNational Sun Yat-sen University · TW
Funding
Tumor Biology and Microenvironment ProgramP30CA013696 · NCI · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI Anil K Rustgi · 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
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
Reprogramming the metabolome to overcome the genetic heterogeneity in retinitis pigmentosaR01EY031354 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI WANG, NAN-KAI · 2020 to 2024
$2.0M
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
Evaluating GWAS AMD Candidate Loci by Gene Editing in Human iPS CellsR21AG050437 · NIA · UNIVERSITY OF IOWA · PI BASSUK, ALEXANDER G, MAHAJAN, VINIT B · 2015 to 2016
backgroundCone dystrophy with supernormal rod response (CDSRR) is a rare inherited retinal degeneration. A patient superimposed with medical conditions requiring use of hydroxychloroquine (HCQ) may obscure accurate diagnosis of CDSRR. Herein, we report a referral case for HCQ retinopathy screening. Comprehensive ophthalmic examinations, however, guided the diagnosis of CDSRR from a novel mutation in potassium voltage-gated channel modifier subfamily V member 2 ( MATERIALS AND
methodsComprehensive ophthalmic examinations were evaluated for two patients whose parents are first cousins. Direct sanger sequencing of
resultsA 38-year-old male proband was referred for HCQ retinopathy screening after taking HCQ for systemic lupus erythematosus (SLE). Fundus examination showed bull's eye pattern, and photoreceptor loss in the foveal region of both eyes was noted on spectral domain-optical coherence tomography (SD-OCT). The full-field electroretinography (ffERG) revealed a disproportionate increase in scotopic maximal response with implicit time delay, as well as universal cone dysfunction. Proband's 24-year-old sister had similar ffERG pattern in both eyes. Direct sanger sequencing of
conclusionsWe report a novel
Indexed as
AdultAntirheumatic AgentsConsanguinityElectroretinographyFemaleFrameshift MutationGenetic TestingHumansHydroxychloroquineLupus Erythematosus, SystemicMalePhenotypePotassium Channels, Voltage-GatedRetinal Cone Photoreceptor CellsRetinal Rod Photoreceptor CellsRetinitis PigmentosaAntirheumatic AgentsHydroxychloroquineKCNV2 protein, humanPotassium Channels, Voltage-GatedCone dystrophy with supernormal rod response (CDSRR)full-field electroretinography (ffERG)hydroxychloroquineKCNV2sanger sequencing
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.
A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response. · full record | OpenQuestion