Abstract
Purpose: Optical coherence tomography angiography (OCTA) is a non-invasive and objective tool for the evaluation of the retinal microvascular changes in Fabry disease (FD). We investigated changes in retinal vasculature in FD patients, and the possible correlation with systemic parameters, by using OCTA, and reviewed the current status of literature.Methods: Thirteen FD patients (eight females, five males, mean age 49.85 ± 14.7 years) were compared with 13 age- and sex-matched healthy controls. OCTA 3 × 3 mm macular scans were performed in all subjects. We evaluated the vessel density and vessel perfusion in distinct macular areas (whole, inner, and outer) of both the superficial capillary plexus (SCP VD and SCP VP) and of the deep capillary plexus (DCP VD and DCP VP). We also evaluated the foveal avascular zone (FAZ) metrics (area, perimeter, and circularity), and correlation between systemic and OCTA parameters. A literature review on the current understanding of OCTA in FD is then presented.Results: FD patients showed significantly lower SCP VD values in the whole area (17.37 ± 2.08 mm−1 vs. 18.54 ± 1.21 mm−1; p-value 0.022), as well as in the outer area (17.46 ± 2.10 mm−1 vs. 19.08 ± 1.14 mm−1; p-value 0.002), but not in the inner. Even the DCP VD was significantly lower in all the imaged areas: whole (17.75 ± 3.93 mm−1 vs. 19.71 ± 1.20 mm−1; p-value 0.024), outer (18.25 ± 4.17 mm−1 vs. 20.33 ± 1.20 mm−1; p-value 0.023), and inner (19.54 ± 4.17 mm−1 vs. 21.96 ± 1.55 mm−1; p-value 0.011). There were no significant differences in vessel perfusion parameters (both SCP VP and DCP VP ones) and FAZ. No significant correlations were found between the OCTA parameters and systemic parameters (maximal left ventricular wall thickness and glomerular filtration rate) in FD patients.Conclusions: OCTA can be considered as a promising non-invasive tool, which enables a quantitative evaluation of retinal vascular involvement in FD, despite the varying data reported in literature. Our results support the use of OCTA as an objective tool to evaluate retinal vascular abnormalities in FD. The utility of OCTA in FD needs to be validated by longitudinal studies taking into account the overall progression of the disease.
Highlights
Fabry disease (FD) is a metabolic pathology caused by mutations in the alpha-galactosidase A (α-GAL) lysosomal enzyme gene located on the X chromosome [1]
We considered a group of FD patients who underwent a comprehensive ophthalmological examination including optical coherence tomography angiography (OCTA) of the posterior pole
Even if our study mainly focused on quantitative vascular abnormalities, a few qualitative features could be reported in FD patients
Summary
Fabry disease (FD) is a metabolic pathology caused by mutations in the alpha-galactosidase A (α-GAL) lysosomal enzyme gene located on the X chromosome [1]. Heterozygous females may be asymptomatic carriers even if they may sometimes show a severe phenotype. An increased knowledge of the disease course suggests to define FD as a pathology with a broad spectrum of phenotypes. This spectrum extends from the severe, classic, male phenotype to the apparently asymptomatic form, that can be found in females, with a wide range of intermediate forms of pathology. An early FD diagnosis based on the prompt identification of signs and symptoms is crucial to start an effective enzyme replacement therapy. The identification of early clinical signs can be difficult due to the heterogeneous presentation, symptoms overlapping with other more common diseases, and less severe kidney or heart involvement in pediatric patients. Recent data indicate that diagnosis occurs on average ∼15 years after the first signs or symptoms in both sexes [7]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
