ArticleAnnals of medicine2023
Investigation of ocular involvement in patients with Fabry disease.
Article in Annals of medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 10 citations in OpenAlex.
- Longitudinal assessment of the retinal phenotype in patients with Fabry disease undergoing continuous enzyme replacement and/or chaperone therapy.Orphanet journal of rare diseases · 2026Observational
- Fabry Disease: A Focus on the Role of Oxidative Stress.Antioxidants (Basel, Switzerland) · 2026Review
- The vestibular and oculomotor dysfunction in Fabry disease: a cohort study in China.Annals of medicine · 2025Article
- Ocular and confocal manifestations of Mainland Chinese with Fabry disease: a cross-sectional controlled study.Orphanet journal of rare diseases · 2025Article
- Investigation of topographic, aberrometric, and endothelial cell features of the cornea in Fabry disease.International ophthalmology · 2025Article
- CDK4/6 inhibitor-associated vortex keratopathy: a case report.BMC ophthalmology · 2025Article
- Deep learning assisted retinal microvasculature assessment and cerebral small vessel disease in Fabry disease.Orphanet journal of rare diseases · 2025Article
- Optical Coherence Tomography (OCT): A Brief Look at the Uses and Technological Evolution of Ophthalmology.Medicina (Kaunas, Lithuania) · 2023Review
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo investigate ocular abnormalities in Fabry disease (FD).
methodsForty-five patients with FD diagnosed by genetic analysis were enrolled in a single medical centre. The following ocular examinations were performed: slit-lamp examination, ophthalmic fundus imaging,
resultsIn this study, the prevalence of corneal verticillata was 97.8% (44/45). Corneal examination with IVCM demonstrated hyper-reflective intracellular inclusions located within basal epithelial cells. Conjunctival vessel malformations were observed in 64.4% (29/45) of patients, and retinal vessel tortuosity was observed in 62.2% (28/45) of patients. OCT revealed many strong hyper-reflective foci (HRF) in the inner retinal layer (in 66.7% [30/45] of patients); these foci may represent retinal vascular plexi. The prevalences of conjunctival vessel malformation, retinal vessel tortuosity and HRF were higher in hemizygote than in heterozygote.
conclusionsCorneal verticillata, HRF on OCT, conjunctival vessel malformation and retinal vessel tortuosity exhibit high prevalence in patients with FD. These ocular manifestations are characteristic and easily accessible; thus, they should be considered diagnostic criteria for FD.
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