Unilateral lattice corneal dystrophy with c.1501C>A (p.P501T) and c.1733T>C (p.L578P) variants in the transforming growth factor-beta induced gene: a case report
A 39-year-old female patient with LCD with c.1501C>A (p.P501T) and c.1733T>C (p.L578P) TGFBI variants exhibited unilateral corneal findings, including recurrent corneal erosion, fine lattice lines, and central corneal haze in the anterior stroma. The study's findings could benefit CD treatment.
Authors
- Yusuke Hara
- Toshiki Shimizu (ORCID: https://orcid.org/0000-0002-4578-0384)
- Jun Shoji (ORCID: https://orcid.org/0000-0001-8957-3312)
- Takahiko Hayashi (ORCID: https://orcid.org/0000-0001-8704-680X)
- Satoru Yamagami (ORCID: https://orcid.org/0000-0002-1330-5386)
- Noriko Inada (ORCID: https://orcid.org/0000-0003-0486-1230)
- Rumi Adachi
- Akiko Tomioka (ORCID: https://orcid.org/0000-0001-9278-193X)
- Kentaro Yuda
Institutions
- Nihon University (JP)
- Minamiaoyama Eye Clinic (JP)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1080/13816810.2024.2434038
- Primary Topic
- TGF-β signaling in diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00