ArticleInternational ophthalmology2023
Ocular findings and their correlation with disease severity in Fabry disease in South-East Anatolia.
Article in International ophthalmology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 3 citations in OpenAlex.
- Evaluation of corneal morphology, pupillometry, and ocular surface parameters in Fabry disease patients: correlation with plasma Lyso-Gb3 levels.International ophthalmology · 2026Article
- Investigation of topographic, aberrometric, and endothelial cell features of the cornea in Fabry disease.International ophthalmology · 2025Article
- Anderson-Fabry Disease: Focus on Ophthalmological Implications.Life (Basel, Switzerland) · 2024Review
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo evaluate the ocular findings and the relationship between these findings and the disease severity of patients with Fabry disease (FD) in South-East Anatolia.
methodsWe enrolled the 24 eyes of 24 patients with FD and the disease severity scores were obtained with FD severity scoring system (DS3). The relationship between the presence of any ocular findings and DS3 scores was evaluated.
resultsThe mean age of the patients was 35.2 ± 8.6 years. The mean DS3 score and α-galactosidase A enzyme activity of the patients was 7.04 ± 3.71 and 1.93 ± 0.84 μmol/l/h, respectively. Of the 24 patients, 20 (83.3%) had cornea verticillate (CV), 18 (75%) had tortuous conjunctival vessels, 15 (62.5%) had tortuous retinal vessels and 3 (12.5%) had lens opacities. The ocular vascular abnormalities were associated with disease severity (p < 0.05); however, the presence of CV did not affect the DS3 scores (p > 0.05).
conclusionsAccording to our study, the patients with ocular vascular abnormalities associated with FD had more severe disease than those who did not have an abnormality. CV was the most common ocular finding in FD, but it has no association with disease severity.
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