Evidence map›Paper›PMID 40091069›Full record

ArticleEye and vision (London, England)2025

Associations between RetNet gene polymorphisms and the efficacy of orthokeratology for myopia control: a retrospective clinical study.

Ruijing Xia, Xiangyi Yu, Hao Wu, Lulu Peng, Zhenlin Du, Xiaoguang Yu, Shilai Xing, Fan Lu, Xinjie Mao

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Article in Eye and vision (London, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

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

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3 · Its place in the literature

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5 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Ruijing Xia *National Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China.
Xiangyi Yu *Institute of PSI Genomics Co., Ltd., Shanghai, China.
Hao WuNational Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China.
Lulu PengNational Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China.
Zhenlin DuInstitute of PSI Genomics Co., Ltd., Shanghai, China.
Xiaoguang YuInstitute of PSI Genomics Co., Ltd., Shanghai, China.
Shilai XingInstitute of PSI Genomics Co., Ltd., Shanghai, China. xingshilai@psi-gene.com.
Fan LuNational Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China. lufan62@eye.ac.cn.
Xinjie MaoNational Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China. mxj@mail.eye.ac.cn.ORCID http://orcid.org/0000-0001-9446-548X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThis study investigated how clinical and genetic factors impact the effectiveness of orthokeratology lenses in myopia.

methodsA retrospective clinical study was conducted with a sample of 545 children aged 8-12 years who had myopia and have initially worn orthokeratology lenses for one year. Whole-genome sequencing (WGS) was also performed on 60 participants in two groups, one with rapid axial length (AL) progression of larger than 0.33 mm and the other with slow AL progression of less than 0.09 mm. The RetNet database was used to screen candidate genes that may contribute to the effectiveness of orthokeratology lenses in controlling myopia.

resultsChildren with greater baseline AL, greater spherical equivalent (SE) and greater age had better myopia control with orthokeratology lenses. A significant excess of nonsynonymous variants was observed among those with slow myopia progression, and these were prominently enriched in retinal disease-related genes. Subsequently, RIMS2 [odds ratio (OR) = 0.01, P = 0.0097] and LCA5 (OR = 9.27, P = 0.0089) were found to harbor an excess number of nonsynonymous variants in patients with slow progression of high myopia. Two intronic common variants rs36006402 in SLC7A14 and rs2285814 in CLUAP1 were strongly associated with AL growth. The identification of these novel genes associated with the effectiveness of orthokeratology lens therapy in myopic children provides insight into the genetic mechanism of orthokeratology treatment.

conclusionThe effectiveness of orthokeratology lens treatment relates to interindividual variability in the control of AL growth in myopic eyes. The efficacy increased when patients carried more nonsynonymous variants in retinal disease-related gene sets. These data serve as reference for genetic counselling and the management of patients who choose orthokeratology lenses to control myopia.

Indexed as

Burden testMyopia controlOrthokeratologySingle-variant association analysisWGS

Identifiers

PMID40091069
PMCPMC11912624

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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.