Computer-assisted retinal vessel diameter evaluation in Fabry disease

Purpose: Fabry disease retinal vascular involvement has been widely reported, with narrowing of the retinal arterioles, dilation and irregularity of the retinal veins, and exaggerated tortuosity of the retinal vessels. We evaluated retinal vessel diameter in Fabry disease, by means of a dedicated software, aiming to provide a quantitative marker of retinal vascular network abnormalities in Fabry disease patients. Material and methods: Observational case-control study evaluating different branches of vessels, peripapillary vessels (group A), temporal vascular arcades (group B), and second-order collaterals of the temporal arcades (group C). We obtained the vessel diameters values from eye fundus digital images of eight Fabry disease patients and eight age-sex matched controls, using a semiautomatic software. Mann–Whitney test was used to compare the Fabry disease group versus the control group. Results: The difference between the average diameters of all the types of vessels considered were significantly smaller in Fabry disease patients compared to healthy controls, resulting in a decrease in size (mm) of 10.9% for group A, 7.8% for group B, and 7.4% for group C. The most evident difference between Fabry disease patients and controls was found in the largest vessels. Conclusion: A computer-assisted analysis of retinal vessel diameter in Fabry disease by means of dedicated software showed narrower retinal arteries in Fabry disease patients than in controls. Our data support the use of semiautomatic assessment of retinal vessel attenuation as an objective and reproducible method to evaluate retinal vascular alterations in Fabry disease, providing a clinical non-invasive tool for early diagnosis and disease monitoring.