A Novel GUCY2D Frameshift Deletion Identified in a Patient with Leber Congenital Amaurosis 1: A Case Report
The patient was a typical case of LCA1 with two GUCY2D mutations. To the best of our knowledge, this is the first report of the allele mutation c.2516_2517del in a patient with LCA1.
Authors
- Lingpeng Zhu (ORCID: https://orcid.org/0000-0003-0762-4038)
- X. Zheng (ORCID: https://orcid.org/0000-0003-3171-173X)
- Yanshan Liu (ORCID: https://orcid.org/0000-0002-4471-4190)
- Tingting Wei
- Chen Chen (ORCID: https://orcid.org/0000-0001-5763-3501)
- Bin Wang (ORCID: https://orcid.org/0000-0002-1398-6599)
- Gao Yin
- Tianxiao Wang (ORCID: https://orcid.org/0000-0003-4038-2050)
- Yingqing Yu
Institutions
- Jiangnan University (CN)
- Wuxi Fourth People's Hospital (CN)
- 181st Hospital of Chinese People's Liberation Army (CN)
- Jiangxi Provincial Children's Hospital (CN)
- Wuxi People's Hospital (CN)
- National Supercomputing Center in Wuxi (CN)
Publication Details
- Journal
- Case Reports in Ophthalmology
- Published
- 2025-11-24
- DOI
- https://doi.org/10.1159/000549558
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00