<i>FGF10/IGSF3</i> Variants in Bony Congenital Nasolacrimal Duct Obstruction: A Genotype-Phenotype Study of Syndromic Versus Isolated Disease
Bony CNLDO is predominantly a monogenic disorder involving FGF10 or IGSF3. FGF10 mutations are associated with syndromic, multi-gland hypoplasia, whereas IGSF3 mutations result in isolated bony CNLDO. These findings enhance understanding of the genetic heterogeneity and genotype-phenotype correlations underlying bony CNLDO, with real-world implications for genetic diagnosis and counseling.
Authors
- Zhao Feng (ORCID: https://orcid.org/0000-0003-0503-4528)
- W Liu
- Y. Li
- Jihang Sun
- Zhang Cy
- Yanhui Cui
- Xiaojie Quan
- Li Li
- Xuefeng Xiao
Institutions
- University of Ottawa (CA)
- Beijing Children’s Hospital (CN)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-12-24
- DOI
- https://doi.org/10.1167/iovs.66.15.69
- Primary Topic
- Nasolacrimal Duct Obstruction Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Beijing Children's Hospital, Capital Medical University