Abstract
BackgroundFabry disease (FD) is an X-linked inherited storage disorder caused by deficiency of lysosomal alpha-Galactosidase A. Here we describe new retinal findings in patients with FD assessed by Spectral domain optical coherence tomography (SD-OCT) and their possible clinical relevance.Methods54 eyes of 27 FD patients and 54 eyes of 27 control subjects were included. The ophthalmic examination included visual acuity testing, tonometry, slit lamp and fundus examination. SD-OCT imaging of the macula was performed in all subjects. Central retinal thickness and retinal nerve fiber layer analysis were quantified. Vessel tortuosity was obtained by a subjective scoring and mathematically calculated. Inner retinal hyperreflective foci (HRF) were quantified, clinically graded and correlated with a biomarker of Fabry disease (lyso-Gb3).ResultsIn comparison to an age-matched control group, a significant amount of HRF was identified in macular SD-OCT images in FD patients. These HRF were localized within the inner retinal layers. Furthermore, lyso-Gb3 levels correlated significantly with the quantitative evaluation of HRF (p < 0,001). In addition, the vessel tortuosity was remarkably increased in FD patients compared to control persons and correlated significantly with lyso-G3 levels (p = 0.005). A further subanalysis revealed significantly higher HRF and vessel tortuosity scores in male patients with the classic FD phenotype.ConclusionsThe observational, cross sectional, comparative study describes novel intraretinal findings in patients with FD. We were able to identify suspicious HRF within the inner retinal layers. These findings were not accompanied by functional limitations, as visual acuity remained unchanged. However, HRF correlated well with lyso-Gb3, a degradation product of the accumulating protein Gb3 and might potentially indicate Gb3 accumulation within the highly metabolic and densely vascularized macula.
Highlights
Fabry disease (FD) is an X-linked multisystemic lysosomal storage disorder characterized by decreased or deficient activity of the enzyme α-Galactosidase A
ERT1 noa agalsidase alfa for 123 mo agalsidase beta for 14 mob agalsidase alfa for 96 mo no no no agalsidase alfa for 23 mo agalsidase alfa for 92 mo agalsidase alfa for 80 mo agalsidase alfa for 72 mo agalsidase beta for 28 mo agalsidase alfa for 30 mo agalsidase alfa for 32 mo no agalsidase beta for 12 mo agalsidase alfa for 25 mo agalsidase alfa for 120 mo agalsidase alfa for 7 mo no agalsidase alfa for 47 mo agalsidase alfa for 28 mo no agalsidase alfa for 124 mo agalsidase alfa for 118 mo no no Results In the present study, we analysed the retinal phenotype of patients with genetically confirmed FD
All analysed patients presented with a best-corrected visual acuity (BCVA) of 20/25 or better in both eyes
Summary
Fabry disease (FD) is an X-linked multisystemic lysosomal storage disorder characterized by decreased or deficient activity of the enzyme α-Galactosidase A. This results in progressive deposition of sphingolipids within a multitude of cells and organs. FD patients present with a wide spectrum of phenotypes – from mono-or oligosymptomatic cases to severe multiorgan involvement [5]. E.g. nonsense mutations typically lead to a classical, severe phenotype, whereas. Cerebrovascular occlusive events include transient ischemic attacks or early stroke, leading to premature death [23, 24]. We describe new retinal findings in patients with FD assessed by Spectral domain optical coherence tomography (SD-OCT) and their possible clinical relevance
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