Evidence map›Paper›PMID 34178978›Full record

ArticleFrontiers in cell and developmental biology2021

Genotype Profile of Global EYS-Associated Inherited Retinal Dystrophy and Clinical Findings in a Large Chinese Cohort.

Ke Xu, De-Fu Chen, Haoyu Chang, Ren-Juan Shen, Hua Gao, Xiao-Fang Wang, Zhuo-Kun Feng, Xiaohui Zhang, Yue Xie, Yang Li and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in cell and developmental biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.2field-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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Atypical retinitis pigmentosa associated withAmerican journal of ophthalmology case reports · 2026
    Article
  2. Article
  3. 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

11 authors at 4 institutions in 1 country.

Ke XuBeijing Ophthalmology and Visual Science Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Beijing Institute of Ophthalmology, Capital Medical University, Beijing, China.
De-Fu ChenSchool of Ophthalmology and Optometry, The Eye Hospital, Wenzhou Medical University, Wenzhou, China.
Haoyu ChangBeijing Ophthalmology and Visual Science Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Beijing Institute of Ophthalmology, Capital Medical University, Beijing, China.
Ren-Juan ShenBeijing Ophthalmology and Visual Science Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Beijing Institute of Ophthalmology, Capital Medical University, Beijing, China.
Hua GaoSchool of Ophthalmology and Optometry, The Eye Hospital, Wenzhou Medical University, Wenzhou, China.
Xiao-Fang WangSchool of Ophthalmology and Optometry, The Eye Hospital, Wenzhou Medical University, Wenzhou, China.
Zhuo-Kun FengSchool of Ophthalmology and Optometry, The Eye Hospital, Wenzhou Medical University, Wenzhou, China.
Xiaohui ZhangBeijing Ophthalmology and Visual Science Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Beijing Institute of Ophthalmology, Capital Medical University, Beijing, China.
Yue XieBeijing Ophthalmology and Visual Science Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Beijing Institute of Ophthalmology, Capital Medical University, Beijing, China.
Yang LiBeijing Ophthalmology and Visual Science Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Beijing Institute of Ophthalmology, Capital Medical University, Beijing, China.
Zi-Bing JinBeijing Ophthalmology and Visual Science Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Beijing Institute of Ophthalmology, Capital Medical University, Beijing, China.
Beijing Tongren Hospital · CNCapital Medical University · CNAffiliated Eye Hospital of Wenzhou Medical College · CNWenzhou Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeThe aim of this study was to probe the global profile of the EYS-associated genotype-phenotype trait in the worldwide reported IRD cases and to build a model for predicting disease progression as a reference for clinical consultation.

methodsThis retrospective study of 420 well-documented IRD cases with mutations in the

resultsA total of 420 well-defined patients with 841 identified mutations in the

conclusionThis large global cohort of 420 IRD cases, with 262 distinct variants, identified genotype-phenotype correlations and mutation spectra with hotspots in the

Indexed as

copy number variationsEYS mutationgenotype-phenotype traithot spot mutationinherited retinal dystrophymutation spectrum

Identifiers

PMID34178978
PMCPMC8226124
OpenAlexW3168670422

What OpenQuestion holds

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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.