Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy
Abstract Background Fuchs endothelial corneal dystrophy is a hereditary disease and the most frequent cause of corneal transplantation in the worldwide. Its main clinical signs are an accelerated decrease in the number of endothelial cells, thickening of Descemet’s membrane and formation of guttae i...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2021-06-01
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| Series: | Eye and Vision |
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| Online Access: | https://doi.org/10.1186/s40662-021-00246-2 |
| _version_ | 1819098598561808384 |
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| author | Xuerui Liu Tao Zheng Chuchu Zhao Yi Zhang Hanruo Liu Liyuan Wang Ping Liu |
| author_facet | Xuerui Liu Tao Zheng Chuchu Zhao Yi Zhang Hanruo Liu Liyuan Wang Ping Liu |
| author_sort | Xuerui Liu |
| collection | DOAJ |
| description | Abstract Background Fuchs endothelial corneal dystrophy is a hereditary disease and the most frequent cause of corneal transplantation in the worldwide. Its main clinical signs are an accelerated decrease in the number of endothelial cells, thickening of Descemet’s membrane and formation of guttae in the extracellular matrix. The cornea’s ability to maintain stromal dehydration is impaired, causing painful epithelial bullae and loss of vision at the point when the amount of corneal endothelial cells cannot be compensated. At present, apart from corneal transplantation, there is no other effective treatment that prevents blindness. Main text In this review, we first summarized the mutations of COL8A2, TCF4, TCF8, SLC4A11 and AGBL1 genes in Fuchs endothelial corneal dystrophy. The molecular mechanisms associated with Fuchs endothelial corneal dystrophy, such as endoplasmic reticulum stress and unfolded protein response pathway, oxidative stress, mitochondrial dysregulation pathway, apoptosis pathway, mitophagy, epithelial-mesenchymal transition pathway, RNA toxicity and repeat-associated non-ATG translation, and other pathogenesis, were then explored. Finally, we discussed several potential treatments related to the pathogenesis of Fuchs endothelial corneal dystrophy, which may be the focus of future research. Conclusions The pathogenesis of Fuchs endothelial corneal dystrophy is very complicated. Currently, corneal transplantation is an important method in the treatment of Fuchs endothelial corneal dystrophy. It is necessary to continuously explore the pathogenesis of Fuchs endothelial corneal dystrophy and establish the scientific foundations for the development of next-generation corneal therapeutics. |
| first_indexed | 2024-12-22T00:33:32Z |
| format | Article |
| id | doaj.art-c873c71cef29441e8a29d01054acb84a |
| institution | Directory Open Access Journal |
| issn | 2326-0254 |
| language | English |
| last_indexed | 2024-12-22T00:33:32Z |
| publishDate | 2021-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Eye and Vision |
| spelling | doaj.art-c873c71cef29441e8a29d01054acb84a2022-12-21T18:44:53ZengBMCEye and Vision2326-02542021-06-018111210.1186/s40662-021-00246-2Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophyXuerui Liu0Tao Zheng1Chuchu Zhao2Yi Zhang3Hanruo Liu4Liyuan Wang5Ping Liu6Department of Ophthalmology, The First Affiliated Hospital of Harbin Medical UniversityDepartment of Ophthalmology, The First Affiliated Hospital of Harbin Medical UniversityDepartment of Ophthalmology, The First Affiliated Hospital of Harbin Medical UniversityDepartment of Ophthalmology, The First Affiliated Hospital of Harbin Medical UniversityThe Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital Medical UniversityDepartment of Ophthalmology, The First Affiliated Hospital of Harbin Medical UniversityDepartment of Ophthalmology, The First Affiliated Hospital of Harbin Medical UniversityAbstract Background Fuchs endothelial corneal dystrophy is a hereditary disease and the most frequent cause of corneal transplantation in the worldwide. Its main clinical signs are an accelerated decrease in the number of endothelial cells, thickening of Descemet’s membrane and formation of guttae in the extracellular matrix. The cornea’s ability to maintain stromal dehydration is impaired, causing painful epithelial bullae and loss of vision at the point when the amount of corneal endothelial cells cannot be compensated. At present, apart from corneal transplantation, there is no other effective treatment that prevents blindness. Main text In this review, we first summarized the mutations of COL8A2, TCF4, TCF8, SLC4A11 and AGBL1 genes in Fuchs endothelial corneal dystrophy. The molecular mechanisms associated with Fuchs endothelial corneal dystrophy, such as endoplasmic reticulum stress and unfolded protein response pathway, oxidative stress, mitochondrial dysregulation pathway, apoptosis pathway, mitophagy, epithelial-mesenchymal transition pathway, RNA toxicity and repeat-associated non-ATG translation, and other pathogenesis, were then explored. Finally, we discussed several potential treatments related to the pathogenesis of Fuchs endothelial corneal dystrophy, which may be the focus of future research. Conclusions The pathogenesis of Fuchs endothelial corneal dystrophy is very complicated. Currently, corneal transplantation is an important method in the treatment of Fuchs endothelial corneal dystrophy. It is necessary to continuously explore the pathogenesis of Fuchs endothelial corneal dystrophy and establish the scientific foundations for the development of next-generation corneal therapeutics.https://doi.org/10.1186/s40662-021-00246-2Fuchs endothelial corneal dystrophyGenetic mutationsMechanismsTherapy |
| spellingShingle | Xuerui Liu Tao Zheng Chuchu Zhao Yi Zhang Hanruo Liu Liyuan Wang Ping Liu Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy Eye and Vision Fuchs endothelial corneal dystrophy Genetic mutations Mechanisms Therapy |
| title | Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy |
| title_full | Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy |
| title_fullStr | Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy |
| title_full_unstemmed | Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy |
| title_short | Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy |
| title_sort | genetic mutations and molecular mechanisms of fuchs endothelial corneal dystrophy |
| topic | Fuchs endothelial corneal dystrophy Genetic mutations Mechanisms Therapy |
| url | https://doi.org/10.1186/s40662-021-00246-2 |
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