Ophthalmologic manifestations associated with Fukutin (FKTN) variant subtypes in Korean patients with Fukuyama congenital muscular dystrophy: a single-center retrospective case series
This study demonstrates that Korean patients with FCMD carrying compound heterozygous variants comprising the RT insertion and deep intronic splice-site variants exhibit a recognizable ophthalmic phenotype characterized by optic disc and retinal abnormalities, highlighting the need for targeted and ophthalmologic surveillance in this patient population.
Authors
- Kihwang Lee (ORCID: https://orcid.org/0000-0003-0478-8758)
- Jeong Hun Kim (ORCID: https://orcid.org/0000-0003-2957-1766)
- Hye Jun Joo
- Seok Jae Lee (ORCID: https://orcid.org/0000-0003-1523-0012)
- Seong-Joon Kim (ORCID: https://orcid.org/0000-0002-7944-6990)
- Jong‐Hee Chae (ORCID: https://orcid.org/0000-0002-9162-0138)
- Jae Ho Jung (ORCID: https://orcid.org/0000-0003-4742-4903)
- Dong Hyun Jo (ORCID: https://orcid.org/0000-0002-6320-6829)
Institutions
- Seoul National University (KR)
- Seoul National University Hospital (KR)
- Seoul National University Children's Hospital (KR)
Publication Details
- Journal
- BMC Ophthalmology
- Published
- 2025-11-04
- DOI
- https://doi.org/10.1186/s12886-025-04432-x
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Seoul National University
- Seoul National University Hospital