Subclinical parents assist in the detection of genetic variants in keratoconus by trio-based whole-exome sequencing.
We found that the candidate variants identified in clinically diagnosed patients and their subclinical parents may cause keratoconus through an autosomal dominant inheritance pattern, with different variable expressivity. This study indicates that genetic testing may play an important role in identifying patients with latent keratoconus and high-risk individuals for corneal ectasia after refractive surgery.
Authors
- S.‐T. Pang (ORCID: https://orcid.org/0000-0002-9838-7965)
- Yinghao Yao (ORCID: https://orcid.org/0009-0001-4763-0400)
- Shilai Xing (ORCID: https://orcid.org/0000-0002-0869-1120)
- Shihao Chen (ORCID: https://orcid.org/0000-0001-7646-8003)
- Siwen Ma
- Yang Zhou (ORCID: https://orcid.org/0000-0001-8159-6835)
- Xingyong Li
Institutions
- Wenzhou Medical University (CN)
- Affiliated Eye Hospital of Wenzhou Medical College (CN)
Publication Details
- Journal
- PubMed
- Published
- 2025-01-01
- Primary Topic
- Corneal surgery and disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00