Genetic predisposition has been increasingly reported in patients with high myopia. A previous study reported that a deleterious mutation in cathepsin H (CTSH) gene causes high myopia. However, the phenotypic and mechanistic characteristics of Ctsh-deficient mice remain unknown. In this study, we generated a Ctsh knockout mouse model using CRISPR/Cas9, and confirmed the abolishment of Ctsh by Sanger sequencing. In the mouse model, myopic shift was measured by photorefraction and axial elongation was detected by magnetic resonance imaging (MRI). Retinal function detected by electroretinogram (ERG) indicated the scotopic responses of knockout mice were reduced, and slight retinal thinning was observed using optical coherence tomography (OCT). In addition, ribonucleic acid sequencing (RNA-seq) and real-time polymerase chain reaction (RT-PCR) demonstrated gene expression changes in the retinas of knockout mice. Our results indicated that Ctsh plays an important role in emmetropization and that its loss-of-function leads to myopia development.
基金：
Chinese Institutes for Medical Research [CX23YZ14]; National Natural Science Foundation of China [82101137, 82125007]; Beijing Hospitals Authority Clinical Medicine Development of Special Funding Support [DFL20220202]; Beijing Municipal Public Welfare Development and Reform Pilot Project for Medical Research Institutes [JYY2023-6]
第一作者机构：[1]Capital Med Univ, Beijing Tongren Hosp, Beijing Inst Ophthalmol, Beijing Tongren Eye Ctr,Beijing Ophthalmol & Visua, Beijing 100730, Peoples R China
共同第一作者：
通讯作者：
通讯机构：[1]Capital Med Univ, Beijing Tongren Hosp, Beijing Inst Ophthalmol, Beijing Tongren Eye Ctr,Beijing Ophthalmol & Visua, Beijing 100730, Peoples R China[*1]Capital Med Univ, Beijing Tongren Hosp, Beijing Inst Ophthalmol, Beijing Tongren Eye Ctr, Beijing 100730, Peoples R China
推荐引用方式(GB/T 7714)：
Mou Hao,She Haicheng,Zhang Chang-Jun,et al.Cathepsin H deficiency leads to myopic phenotype in mice[J].EXPERIMENTAL EYE RESEARCH.2025,258:doi:10.1016/j.exer.2025.110447.
APA：
Mou, Hao,She, Haicheng,Zhang, Chang-Jun,Li, Min,Wang, Wen...&Jin, Zi-Bing.(2025).Cathepsin H deficiency leads to myopic phenotype in mice.EXPERIMENTAL EYE RESEARCH,258,
MLA：
Mou, Hao,et al."Cathepsin H deficiency leads to myopic phenotype in mice".EXPERIMENTAL EYE RESEARCH 258.(2025)
