Computer assisted evaluation of retinal vessels tortuosity in Fabry disease

Andrea Sodi, Marco Guarducci, Lucy Vauthier, Alexander S. Ioannidis, Susanne Pitz, Giacomo Abbruzzese, Francesco Sofi, Alessandro Mecocci, Alba Miele, Ugo Menchini

Research output: Contribution to journalArticlepeer-review


Purpose: Fabry Disease (FD) is a rare X-linked metabolic disorder characterized by diffuse deposition of sphingolipids in many tissues. Retinal vessel tortuosity is a common ocular manifestation in FD and may represent a useful marker for the disease. Unfortunately its clinical evaluation is poorly reproducibile and alternative means of evaluation may be of interest. We tested a new semi-automatic software measuring retinal vessel tortuosity from eye fundus digital images in a group of FD patients. Methods: Observational case-control study evaluating four mathematical parameters describing tortuosity (relative length, sum of angle metric [SOAM], product of angle distance [PAD], triangular index) obtained from fundus pictures of 35 FD patients and 35 age-matched controls. Only the right eye was considered in order to reduce bias. Mann-Whitney test was used to compare the FD group versus the control group, males versus females and patients with versus without clinically identified retinal vessels tortuosity in the FD group. Linear regression analysis was performed on a subgroup of patients to evaluate the possible association of retinal vessels tortuosity parameters with age and with markers of systemic disease's progression. Results: Three parameters (SOAM, PAD and triangular index) were significantly higher in FD patients in comparison with the controls (p <0.0001, p = 0.001, p = 0.002 respectively). In the FD group the same three parameters showed higher values in hemizygous males than in heterozygous females ((p <0.0001, p = 0.002, p <0.0001 respectively). Conclusion: A computer assisted analysis of retinal vasculature demonstrated an increased vessels tortuosity in FD patients. The technique might be useful to establish disease severity and monitor its progression.

Original languageEnglish
JournalActa Ophthalmologica
Issue number2
Publication statusPublished - Mar 2013


  • computer-assisted analysis
  • Fabry disease
  • image processing
  • retinal vessels tortuosity

ASJC Scopus subject areas

  • Ophthalmology


Dive into the research topics of 'Computer assisted evaluation of retinal vessels tortuosity in Fabry disease'. Together they form a unique fingerprint.

Cite this