Ocular and confocal manifestations of Mainland Chinese with Fabry disease: a cross-sectional controlled study
This study substantially enhances our understanding of FD-associated ocular alterations in the mainland Chinese demographic. The presence of CV opacities, posterior capsular opacification, or distinct changes observed in IVCM offers the potential for early detection of FD. Additionally, there is a notable increase in DCs and a positive correlation between posterior capsular opacification and MSSI scores. These findings support the integration of ocular biomarker screening into standardized FD diagnostic protocols to facilitate pre-symptomatic interventions, particularly in familial risk cohorts.
Authors
- Bingyuan Zhou
- Xinyu Zhuang
- Yao Xu (ORCID: https://orcid.org/0000-0002-2122-392X)
- Jiali Fan (ORCID: https://orcid.org/0000-0002-6371-2377)
- Ying‐Jie Chen (ORCID: https://orcid.org/0000-0002-4604-3896)
- Sasa Kou
- Xiaofeng Zhang (ORCID: https://orcid.org/0000-0003-0604-0532)
Institutions
- Soochow University (CN)
- Second Affiliated Hospital of Soochow University (CN)
- Suzhou Vocational Health College (CN)
- First Affiliated Hospital of Soochow University (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-08-10
- DOI
- https://doi.org/10.1186/s13023-025-03940-9
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Suzhou Municipal Health Commission
- Soochow University