Multiple problems: a case of Cohen syndrome VPS13B mutation causing bilateral spherical lenses combined with retinitis pigmentosa
Ophthalmologists should consider the diagnosis of Cohen syndrome in patients with developmental delay, spherical lens, and retinitis pigmentosa. A detailed ophthalmologic examination and general examination should be considered in such patients.
Authors
- Xin Jin (ORCID: https://orcid.org/0000-0001-7959-6924)
- Congcong Zheng
- Hong Chen (ORCID: https://orcid.org/0000-0003-1904-0857)
- Wulin Zhang
- Chenyu Zhao (ORCID: https://orcid.org/0000-0001-8834-5414)
- Liang Chen (ORCID: https://orcid.org/0000-0001-8016-7596)
- Lifei Wang (ORCID: https://orcid.org/0000-0002-6676-7525)
- Guoxing Yang (ORCID: https://orcid.org/0000-0002-1019-2021)
- Kai Meng (ORCID: https://orcid.org/0000-0002-3939-273X)
- Ming Xie
- Pei Gao (ORCID: https://orcid.org/0009-0007-6038-915X)
- Yifan Wang (ORCID: https://orcid.org/0000-0002-3064-9148)
- G Ma
Institutions
- Hebei Eye Hospital (CN)
Publication Details
- Journal
- BMC Ophthalmology
- Published
- 2025-08-14
- DOI
- https://doi.org/10.1186/s12886-025-04201-w
- Citations
- 1
- Primary Topic
- Blood disorders and treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.82