Purchase this article with an account.
Chiara Lenzetti, Andrea Sodi, Daniela Bacherini, Lucia Finocchio, Fatema Ullah Patwary, Ilaria Tanini, Iacopo Olivotto, Gianni Virgili, Stanislao Rizzo; Computer-assisted evaluation of vessels tortuosity in Fabry disease. Invest. Ophthalmol. Vis. Sci. 2018;59(9):1696.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
Fabry Disease (FD) is a rare multisystem X-linked lysosomal storage disorder characterized by diffuse deposition of glycosphingolipids in many tissues. Retinal and conjunctival vessel tortuosity are a common ocular manifestation in FD and may represent a useful marker for the disease. Unfortunately, its clinical evaluation is poorly reproducible and alternative means of evaluation may be of interest. We tested a new semi-automatic software measuring retinal and conjunctival vessels tortuosity from eye fundus and conjunctival digital images in a group of FD patients.
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 and conjunctival sectors pictures of 8 FD patients and 8 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, males versus females patients. Linear regression analysis was performed on a subgroup of patients to evaluate the possible association of retinal and conjunctival vessels tortuosity parameters with age and with markers of systemic disease’s progression.
We included in the study 8 FD patients (M:F=2:6, mean age 52±15 years) and 8 age and sex-matched controls. Three parameters (SOAM, PAD and triangular index) were significantly higher in retinal vessels and in conjunctival vessels in the nasal sector of FD patients in comparison with the controls (p = 0.012, p = 0.006, p = 0.040 respectively for retina) (p = 0.006, p = 0.002, p < 0.001 respectively for conjunctiva). In the FD group the same three parameters showed higher values in homozygous males than in heterozygous females (p = 0.006, p = 0.009, p = 0.033 respectively). No significant association was found between tortuosity parameters and age or systemic involvement.
Vessels 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.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.
This PDF is available to Subscribers Only