Genetic landscape and ocular biometric correlations in microspherophakia: insights from a comprehensive patient cohort
The study demonstrates that MSP is associated with a diverse range of genetic mutations, with FBN1 being the most common. Novel mutations were identified, and significant correlations were found between specific genetic variations and ocular biometric parameters. These results provide new insights into the genetic underpinnings of MSP and its clinical characteristics, advancing our understanding of the condition's pathogenic mechanisms.
Authors
- Linghao Song
- Qiuyi Huo
- Yongxiang Jiang (ORCID: https://orcid.org/0000-0001-9770-5733)
- Xinyue Wang (ORCID: https://orcid.org/0000-0002-9206-0021)
- Yan Liu (ORCID: https://orcid.org/0000-0002-8645-5123)
- Xin Shen (ORCID: https://orcid.org/0000-0002-9692-822X)
- Ye Zhao
- Yang Sun (ORCID: https://orcid.org/0000-0003-4133-2186)
- Tianhui Chen (ORCID: https://orcid.org/0000-0002-6358-1880)
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Fudan University (CN)
- Eye & ENT Hospital of Fudan University (CN)
- Shandong Eye Hospital (CN)
Publication Details
- Journal
- Human Genomics
- Published
- 2025-03-01
- DOI
- https://doi.org/10.1186/s40246-025-00729-6
- Citations
- 2
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 3.63
Funders
- Shanghai Science and Technology Development Foundation
- National Natural Science Foundation of China