Comprehensive genetic landscapes and clinical heterogeneity in nanophthalmos: new insights from a large Chinese cohort
This study represents the largest cohort of nanophthalmos patients reported to date, expanding the genetic and clinical understanding of the condition. It identifies novel variants and provides valuable insights into genotype-phenotype correlations, highlighting the impact of genetic variation on the disease severity and associated complications of nanophthalmos.
Authors
- Xinghuai Sun
- Jiajian Wang (ORCID: https://orcid.org/0000-0003-1766-0681)
- Xiangmei Kong (ORCID: https://orcid.org/0000-0002-8142-6040)
- Qingdan Xu (ORCID: https://orcid.org/0000-0001-7910-3122)
- Junyi Chen (ORCID: https://orcid.org/0000-0002-0388-2120)
- Yiwen Zhou (ORCID: https://orcid.org/0000-0002-9218-9837)
- Yi Dai
- Yuhong Chen (ORCID: https://orcid.org/0000-0002-4396-6353)
- Xiaobo Yu (ORCID: https://orcid.org/0009-0007-6142-528X)
- Shaohong Qian
Institutions
- Fudan University (CN)
- Eye & ENT Hospital of Fudan University (CN)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-09-19
- DOI
- https://doi.org/10.1136/jmg-2025-110905
- Primary Topic
- Ocular Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00