Quantitative Analysis of Conjunctival and Retinal Vessels in Fabry Disease

Andrea Sodi, Chiara Lenzetti*, Daniela Bacherini, Lucia Finocchio, Tommaso Verdina, Isabella Borg, Francesca Cipollini, Fatema Ullah Patwary, Ilaria Tanini, Claudia Zoppetti, Stanislao Rizzo, Gianni Virgili

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)
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Fabry Disease (FD) is a rare X-linked lysosomal storage disorder characterized by systemic and ocular involvement. It has been described an increasing in retinal and conjunctival vessel tortuosity and this feature represents an important marker for the disease. Currently, there is not an objective method to measure and quantify this parameter. We tested a new semi-automatic software measuring retinal and conjunctival vessel tortuosity from eye fundus and conjunctival digital images in a group of FD patients. We performed an observational case-control study evaluating three mathematical parameters describing tortuosity (sum of angle metric [SOAM], product of angle distance [PAD], triangular index [I2e]) obtained from fundus and conjunctival pictures of 11 FD patients and 11 age and sex-matched controls. Both eyes were considered. Mann-Whitney test was used to compare the FD group versus the control group and, within the FD group, male versus female patients. Linear regression analysis was performed to evaluate the possible association of retinal and conjunctival vessels tortuosity parameters with age and with specific markers of systemic disease's progression. The tortuosity parameters (SOAM, PAD and I2e) were significantly higher in retinal vessels and in conjunctival nasal vessels in FD patients in comparison with the controls (p=0.003, p=0.002, p=0.001 respectively for retina) (p=0.023, p=0.014, p=0.001 respectively for nasal conjunctiva). No significant association was found between retinal and conjunctival tortuosity parameters and increasing age or systemic involvement markers. Vessel tortuosity represents an important clinical manifestation in FD. A computer-assisted analysis of retinal and conjunctival vasculature demonstrated an increased vessels tortuosity in patients affected by Fabry disease. This non-invasive technique might be useful to help the diagnosis in early stages, to establish disease severity and monitor its progression.

Original languageEnglish
Article number4696429
Number of pages6
JournalJournal of Ophthalmology
Publication statusPublished - 10 Apr 2019
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2019 Andrea Sodi et al.

Copyright 2019 Elsevier B.V., All rights reserved.

ASJC Scopus subject areas

  • Ophthalmology


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