A case of paternity-confirmed de novo R124H mutation resulting in granular corneal dystrophy type 2
A negative family history of GCD2 and the absence of GCD2 in the parents of patients seeking refractive surgery are not sufficient to exclude a diagnosis of GCD2 because some cases of GCD2 arise from de novo mutations. Exclusion of GCD2 before refractive surgery requires genetic analysis for the p.(Arg124His) mutation.
Authors
- Elmer Y. Tu (ORCID: https://orcid.org/0000-0002-3765-2569)
- Kyoung‐Jin Shin (ORCID: https://orcid.org/0000-0002-1059-9665)
- Jin‐Seok Choi (ORCID: https://orcid.org/0000-0001-6121-5804)
- Eung Kweon Kim (ORCID: https://orcid.org/0000-0002-1453-8042)
- Ji Sang Min
- Tae‐im Kim (ORCID: https://orcid.org/0000-0001-6414-3842)
Institutions
- Yonsei University (KR)
- Anyang Eye Hospital (CN)
- Woolfson Eye Institute (US)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-06-24
- DOI
- https://doi.org/10.1080/13816810.2025.2507085
- Primary Topic
- Oral and Maxillofacial Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Research Foundation