Geographic and Phenotypic Variability in RHO-Associated Retinopathy: Evidence From a Chinese Cohort and Global Literature
Our study represents the largest study integrating ethnic, genotypic, and clinical data in RHO-associated retinopathy. The findings highlight substantial inter-ethnic differences in common variants and underscore the clinical relevance of biological classification in predicting disease course. In particular, R135W and P347L warrants closer clinical attention due to their aggressive trajectory, which may inform prioritization in gene therapy trials and individualized patient management.
Authors
- Chenyue Hang (ORCID: https://orcid.org/0000-0003-2311-7255)
- Suqin Yu
- Xiaoling Wan
- Tianyuan Zhao
- Xujun Jiang
- Xinxin Liu (ORCID: https://orcid.org/0000-0003-0140-8297)
- Tong Li (ORCID: https://orcid.org/0000-0003-1166-1528)
- Hao Zhou (ORCID: https://orcid.org/0000-0003-4134-9631)
- Huixun Jia
- Jieqiong Chen
- Yuanyuan Gong
- Junran Sun
- Kairong Zheng
- Yutian Jiao
- Ting Zhang
- Xiaodong Sun
- Zhixuan Chen
- Hong Wang (ORCID: https://orcid.org/0009-0005-7469-5276)
- Lin Chen
Institutions
- Xerox (France) (FR)
- He Eye Hospital (CN)
Publication Details
- Journal
- American Journal of Ophthalmology
- Published
- 2025-12-23
- DOI
- https://doi.org/10.1016/j.ajo.2025.12.020
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00