Abstract
Purpose :
Fabry disease is an X-linked inherited storage disorder caused by deficiency of the lysosomal enzyme alpha-galactosidase A. The retinal phenotype includes vascular tortuosity and intraretinal hyperreflective foci which were previously reported by our group. The aim of this work was to longitudinally investigate retinal alterations in patients with continuous enzyme replacement therapy and/or chaperone therapy.
Methods :
In total, 56 eyes of 28 previously assessed patients were screened for this observational study. Seven patients were excluded due to loss of follow-up (n=4), or due to discontinuation of therapy (n=3). Thus, 42 eyes of 21 patients were longitudinally assessed. Comprehensive ophthalmic examinations included multimodal retinal imaging with spectral-domain optical coherence tomography. The thickness of the central retinal and of the retinal nerve fiber layer was quantified. Based on a scoring system and mathematical calculations the vessel tortuosity and the hyperreflective foci were assessed.
Results :
During the mean observation period of 6,1 years (range 3-8 years), 17 patients received enzyme replacement therapy, 3 chaperone therapy, and 1 patient a combination of both. No significant changes of the vascular tortuosity and the amount of hyperreflective foci were observed. Longitudinal assessment of the central retinal thickness, retinal nerve fiber layer, and visual acuity revealed no significant alterations. In line with our previous work, a strong correlation between globotriaosylsphingosine (lyso-Gb3) levels, an established biomarker for the disease severity of Fabry disease, and vessel tortuosity (p<0,001) was seen. A detailed evaluation of the hyperreflective foci, age- and gender-related retinal changes, potential systemic correlations and subgroup analyses are ongoing.
Conclusions :
This study suggests that continuous enzyme replacement therapy and/or chaperone therapy may halt the progression of retinal changes in Fabry disease.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.