Computer assisted evaluation of retinal vessels tortuosity in Fabry disease

Abstract

. 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.

Cornea verticillata supports a diagnosis of Fabry disease in non-classical phenotypes: results from the Dutch cohort and a systematic review

“…Posterior lens cataract has previously been described as a specific feature in FD 37. This type of cataract has been reported in a few studies only with a prevalence up to 53% of men with FD 12 24 30 35…”

“…One of the registry studies reported a CV prevalence of 75% (men 73%, women 77%),30 while the second reported that in 11% of men and 12% of women CV was the presenting symptom 34. The high-risk group screening studies revealed that CV was absent in all adult individuals (n=29, 12 men) who were identified with a GLA variant 32 33…”

Quantification of Microvascular Tortuosity during Tumor Evolution Using Acoustic Angiography

“…It is the quantification of these tortuosity metrics which provides a new way to describe tumors using ultrasound imaging (Gessner et al 2012). Tortuosity associated with malignancy has been used previously with other imaging modalities such as magnetic resonance angiography (MRA), photoacoustic tomography, microscopy, and computed tomography (CT) (Jain 2003; Bullitt et al 2004; Bullitt et al 2005b; Bullitt et al 2006; Badea et al 2008; Laufer et al 2012; Sodi et al 2013). However, ultrasound applications of tortuosity metrics have primarily been limited to quantification of skeletonizations from intensity thresholding of Doppler ultrasound images (Huang et al 2008; Molinari et al 2010; Chang et al 2012; Molinari et al 2014).…”

Quantification of Tortuosity and Fractal Dimension of the Lung Vessels in Pulmonary Hypertension Patients

“…Tortuosity is also applied in clinical settings to differentiate between benign and malignant tumours [14], [15] or to characterize retinal vascular changes [16]. The most common metric of vascular tortuosity is the “distance metric”, which provides a ratio of the actual vessel path length to the linear distance between its endpoints [17], [18].…”