Evidence map›Paper›PMID 40098727›Full record

ArticleMolecular vision2025

Subclinical parents assist in the detection of genetic variants in keratoconus by trio-based whole-exome sequencing.

Xingyong Li, Yinghao Yao, Shilai Xing, Siwen Ma, Shuaiyue Pang, Yang Zhou, Shihao Chen

Abstract read
PubMed Full text at PMC
In one paragraph

Article in Molecular vision, 2025. 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
–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.

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. 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

7 authors.

Xingyong LiNational Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, China.
Yinghao YaoOujiang Laboratory (Zhejiang Lab for Regenerative Medicine, Vision and Brain Health), Eye Hospital, Wenzhou Medical University, Wenzhou, China.
Shilai XingInstitute of PSI Genomics, Wenzhou Global Eye & Vision Innovation Center, Wenzhou, China.
Siwen MaNational Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, China.
Shuaiyue PangTaizhou Eye Hospital, Taizhou, China.
Yang ZhouTaizhou Eye Hospital, Taizhou, China.
Shihao ChenNational Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: To explore the genetic variants of 14 keratoconus trios containing subclinical parents. Methods: Trio-based whole-exome sequencing was performed in 14 keratoconus trios containing subclinical parents. The variants identified in candidate genes of keratoconus were analyzed by multiple bioinformatics tools. Results: We identified 12 variants in 10 candidate genes of keratoconus ( Conclusions: We found that the candidate variants identified in clinically diagnosed patients and their subclinical parents may cause keratoconus through an autosomal dominant inheritance pattern, with different variable expressivity. This study indicates that genetic testing may play an important role in identifying patients with latent keratoconus and high-risk individuals for corneal ectasia after refractive surgery.

Indexed as

Exome SequencingGenetic VariationKeratoconusParentsAdolescentAdultFemaleGenes, DominantGenetic Predisposition to DiseaseGenetic TestingHeterozygoteHumansMalePedigreeYoung Adult

Identifiers

PMID40098727
PMCPMC11913067

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