Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa
This study reports the mutational spectrum of a cohort of Korean patients with a clinical diagnosis of RP who were referred for genetic testing. This study adds valuable data regarding the frequency of genes as well as their relation to the age of symptom onset and relation to other inherited retinal degenerations.
Authors
- Hyo Song Park (ORCID: https://orcid.org/0000-0002-0534-2558)
- Jin Ha Kim (ORCID: https://orcid.org/0000-0003-4001-1487)
- Tae Kwann Park (ORCID: https://orcid.org/0000-0001-9689-4384)
- Jeong Nam Choi (ORCID: https://orcid.org/0000-0003-0929-460X)
- Kyung Kim (ORCID: https://orcid.org/0000-0002-7712-3135)
- Jong‐Young Lee (ORCID: https://orcid.org/0000-0002-0092-9958)
- Jung Woo Han (ORCID: https://orcid.org/0000-0003-1145-8693)
- Dongwook Lee
Institutions
- Soonchunhyang University (KR)
- Soonchunhyang University Hospital Seoul (KR)
- Foundation Fighting Blindness (US)
- Cell and Gene Therapy Catapult (GB)
- Kimpo University (KR)
- Singularity University (US)
- Bucheon University (KR)
Publication Details
- Journal
- Journal of Korean Medical Science
- Published
- 2024-12-13
- DOI
- https://doi.org/10.3346/jkms.2025.40.e54
- Citations
- 1
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.23
Funders
- Soonchunhyang University
- Ministry of Health and Welfare
- National Research Council of Science and Technology