Evidence map›Paper›PMID 40547359›Full record

ArticleFrontiers in genetics2025

Polymorphous corneal dystrophy subtype 3 and keratoconus aggravation after corneal refractive surgery in a three-generation family carrying both

Qinghong Lin, Xuejun Wang, Xiaoliao Peng, Xiaosong Han, Xiaoyu Zhang, Ling Sun, Yan Wang, Shengtao Liu, Xingtao Zhou

Abstract read
In one paragraph

Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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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

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Qinghong Lin *Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.
Xuejun Wang *Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.
Xiaoliao Peng *Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.
Xiaosong HanDepartment of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.
Xiaoyu ZhangDepartment of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.
Ling SunDepartment of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.
Yan WangRefractive Surgery Department, Bright Eye Hospital, Fuzhou, China.
Shengtao LiuDepartment of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.
Xingtao ZhouDepartment of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: This study reports a three-generation Chinese family with polymorphous corneal dystrophy subtype 3 (PPCD3) and keratoconus (KC) aggravation induced by corneal refractive surgery, specifically small incision lenticule extraction (SMILE), in the context of genetic variations. Methods: The history of illnesses and blood samples of all family members were collected. One hundred healthy individuals served as normal controls. We conducted whole exome sequencing on genomic DNA and sanger sequencing to verify the variants between all controls and family members. Results: Three family members were previously diagnosed with subclinical keratoconus (III1 and III2 preoperatively, and II2). Both the proband (III1) and her younger brother (III2) underwent SMILE to correct refractive errors. One year later, visual acuity of III1 decreased significantly with KC aggravation and corneal opacification. The KC of III2 progressed significantly 6 months after surgery. Both were subsequently diagnosed with PPCD3. We detected both Zinc finger E-box-binding homeobox 1 (ZEB1) gene and zinc finger protein 469 (ZNF469) gene pathogenic variant in the proband and another two patients in this family, including a heterozygous missense variation c.13C>G (p.P5A, rs753301298) in the Conclusion: This study demonstrated the importance of a thorough ocular examination, especially the cornea, and a gene screening before SMILE.

Indexed as

corneal refractive surgerykeratoconus (KC)posterior polymorphous corneal dystrophy (PPCD)Zeb1ZNF469

Identifiers

PMID40547359
PMCPMC12179129

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