Maximilian Robert Justus Wiest1, Mario Damiano Toro1,2, Albina Nowak3,4, Joel Baur1, Katrin Fasler1, Timothy Hamann1, Mayss Al-Sheikh1, Sandrine Anne Zweifel1. 1. Department of Ophthalmology, University Hospital Zurich, University of Zurich, 8091 Zurich, Switzerland. 2. Faculty of Medical Sciences, Collegium Medicum, Cardinal Stefan Wyszyński University, 01815 Warsaw, Poland. 3. Department of Endocrinology and Clinical Nutrition, University Hospital Zurich, University of Zurich, 8091 Zurich, Switzerland. 4. Department of Internal Medicine, Psychiatry University Clinic Zurich, 8091 Zurich, Switzerland.
Abstract
BACKGROUND: To date, there are no studies associating the dried blood spot (DBS) levels of globotrioasylsphingosine (lysoGb3) with quantitative optical coherence tomography angiography (OCTA) parameters in Fabry disease (FD) patients. Here, we aimed to investigate the association between OCTA vessel density (VD), vessel length density (VLD) with DBS lysoGb3. METHODS: A retrospective, single center analysis of all consecutive FD patients enrolled at the Department of Ophthalmology of the University Hospital of Zurich from 1 December 2017 to 9 September 2020. An association between VD and VLD detected by OCTA and lysoGb3 was investigated using a linear mixed model. RESULTS: A total of 57 FD patients (23 male, 34 female; 109 eyes) were included. Forty-one patients suffered from the classic phenotype and 16 from the later-onset phenotype. LysoGb3 inversely correlated with VD and VLD in both the superficial (VD: p = 0.034; VLD: p = 0.02) and deep capillary plexus (VD: p = 0.017; VLD: p = 0.018) in the overall FD cohort. CONCLUSIONS: Our study shows an association between lysoGb3 and OCTA VD and VLD. This supports the hypothesis that quantitative OCTA parameters might be useful as diagnostic biomarkers for evaluating systemic involvement in FD, and possibly other diseases.
BACKGROUND: To date, there are no studies associating the dried blood spot (DBS) levels of globotrioasylsphingosine (lysoGb3) with quantitative optical coherence tomography angiography (OCTA) parameters in Fabry disease (FD) patients. Here, we aimed to investigate the association between OCTA vessel density (VD), vessel length density (VLD) with DBS lysoGb3. METHODS: A retrospective, single center analysis of all consecutive FDpatients enrolled at the Department of Ophthalmology of the University Hospital of Zurich from 1 December 2017 to 9 September 2020. An association between VD and VLD detected by OCTA and lysoGb3 was investigated using a linear mixed model. RESULTS: A total of 57 FDpatients (23 male, 34 female; 109 eyes) were included. Forty-one patients suffered from the classic phenotype and 16 from the later-onset phenotype. LysoGb3 inversely correlated with VD and VLD in both the superficial (VD: p = 0.034; VLD: p = 0.02) and deep capillary plexus (VD: p = 0.017; VLD: p = 0.018) in the overall FD cohort. CONCLUSIONS: Our study shows an association between lysoGb3 and OCTA VD and VLD. This supports the hypothesis that quantitative OCTA parameters might be useful as diagnostic biomarkers for evaluating systemic involvement in FD, and possibly other diseases.
Authors: Vincenza Bonfiglio; Robert Rejdak; Katarzyna Nowomiejska; Sandrine Anne Zweifel; Maximilian Robert Justus Wiest; Giovanni Luca Romano; Claudio Bucolo; Lucia Gozzo; Niccolò Castellino; Clara Patane; Corrado Pizzo; Michele Reibaldi; Andrea Russo; Antonio Longo; Matteo Fallico; Iacopo Macchi; Maria Vadalà; Teresio Avitabile; Ciro Costagliola; Kamil Jonak; Mario Damiano Toro Journal: Front Pharmacol Date: 2022-04-06 Impact factor: 5.988
Authors: Nadhini Arumuganathan; Maximilian Robert Justus Wiest; Mario Damiano Toro; Timothy Hamann; Katrin Fasler; Sandrine Anne Zweifel Journal: Sci Rep Date: 2021-09-29 Impact factor: 4.379