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.

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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

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article

Ocular and confocal manifestations of Mainland Chinese with Fabry disease: a cross-sectional controlled study

Bingyuan Zhou, Xinyu Zhuang, Yao Xu, Jiali Fan et al.
Orphanet Journal of Rare Diseases
Lysosomal Storage Disorders Research
article

Ocular and confocal manifestations of Mainland Chinese with Fabry disease: a cross-sectional controlled study

Bingyuan Zhou, Xinyu Zhuang, Yao Xu, Jiali Fan, Ying‐Jie Chen, Sasa Kou, Xiaofeng Zhang
article en

Abstract

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.

Orphanet Journal of Rare DiseasesVol. 20(1)
Soochow University (CN), Second Affiliated Hospital of Soochow University (CN), Suzhou Vocational Health College (CN), First Affiliated Hospital of Soochow University (CN)
Suzhou Municipal Health Commission, Soochow University
Openalex Percentile: Top 74%
Lysosomal Storage Disorders Research
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