scholarly journals Quantitative Analysis of Conjunctival and Retinal Vessels in Fabry Disease

2019 ◽  
Vol 2019 ◽  
pp. 1-6 ◽  
Author(s):  
Andrea Sodi ◽  
Chiara Lenzetti ◽  
Daniela Bacherini ◽  
Lucia Finocchio ◽  
Tommaso Verdina ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Linear Regression Analysis ◽  
Group Versus ◽  
Invasive Technique ◽  
Control Group ◽  
Computer Assisted ◽  
Ocular Involvement ◽  
Retinal Vessels ◽  
Lysosomal Storage ◽  
Vessel Tortuosity

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.

Computer-assisted retinal vessel diameter evaluation in Fabry disease

2019 ◽  
pp. 112067211988698
Author(s):  
Andrea Sodi ◽  
Cristina Nicolosi ◽  
Giulio Vicini ◽  
Chiara Lenzetti ◽  
Gianni Virgili ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Group Versus ◽  
Retinal Vessel ◽  
Vessel Diameter ◽  
Vascular Involvement ◽  
Control Group ◽  
Computer Assisted ◽  
Retinal Vessel Diameter ◽  
Group A ◽  
Group B

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.

scholarly journals Computer assisted evaluation of retinal vessels tortuosity in Fabry disease

2012 ◽  
Vol 91 (2) ◽  
pp. e113-e119 ◽  
Author(s):  
Andrea Sodi ◽  
Marco Guarducci ◽  
Lucy Vauthier ◽  
Alexander S. Ioannidis ◽  
Susanne Pitz ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Computer Assisted ◽  
Retinal Vessels

COMPUTER ASSISTED RETINAL VESSEL TORTUOSITY EVALUATION IN NOVEL MUTATION FABRY DISEASE

Retina ◽  
2017 ◽  
Vol 37 (3) ◽  
pp. 592-603 ◽  
Author(s):  
Irene San Román ◽  
María-Elena Rodríguez ◽  
Orsola Caporossi ◽  
Claudia Zoppetti ◽  
Andrea Sodi ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Novel Mutation ◽  
Retinal Vessel ◽  
Computer Assisted ◽  
Vessel Tortuosity

scholarly journals Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses

Diagnostics ◽  
2020 ◽  
Vol 10 (3) ◽  
pp. 155 ◽  
Author(s):  
Galina Baydakova ◽  
Alex Ilyushkina ◽  
Lidia Gaffke ◽  
Karolina Pierzynowska ◽  
Igor Bychkov ◽  
...  
Keyword(s):  
Heparan Sulfate ◽  
Fabry Disease ◽  
Direct Result ◽  
Control Group ◽  
Lysosomal Storage ◽  
Mps Ii ◽  
Mps Vi ◽  
Mps I ◽  
Mps Iii

Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders associated with impaired glycosaminoglycans (GAGs) catabolism. In MPS I, II, III, and VII, heparan sulfate (HS) cannot be degraded because of the lack of sufficient activity of the respective enzymes, and its accumulation in the brain causes neurological symptoms. Globotriaosylsphingosine (LysoGb3), the deacylated form of globotriaosylceramide (Gb3), is described as a highly sensitive biomarker for another lysosomal storage disease—Fabry disease. The connection between MPSs and LysoGb3 has not yet been established. This study included 36—MPS I, 15—MPS II, 25—MPS III, 26—MPS IV, and 14—MPS VI patients who were diagnosed by biochemical and molecular methods and a control group of 250 males and 250 females. The concentration of lysosphingolipids (LysoSLs) was measured in dried blood spots by high pressure liquid chromatography—tandem mass spectrometry. We have demonstrated that LysoGb3 concentration was significantly elevated (p < 0.0001) in untreated MPS I (3.07 + 1.55 ng/mL), MPS II (5.24 + 2.13 ng/mL), and MPS III (6.82 + 3.69 ng/mL) patients, compared to the control group (0.87 + 0.55 ng/mL). LysoGb3 level was normal in MPS VI and MPS IVA (1.26 + 0.39 and 0.99 + 0.38 ng/mL, respectively). Activity of α-galactosidase A (α-Gal A), an enzyme deficient in Fabry disease, was not, however, inhibited by heparan sulfate in vitro, indicating that an increase of LysoGb3 level in MPS I, MPS II, and MPS III is an indirect effect of stored MPSs rather than a direct result of impairment of degradation of this compound by HS. Our findings indicate some association of elevated LysoGb3 concentration with the neuronopathic forms of MPSs. The pathological mechanism of which is still to be studied.

scholarly journals Survey about the Quality of Life of Italian Patients with Fabry Disease

Diseases ◽  
2021 ◽  
Vol 9 (4) ◽  
pp. 72
Author(s):  
Barbara Polistena ◽  
Donato Rigante ◽  
Ludovico Luca Sicignano ◽  
Elena Verrecchia ◽  
Raffaele Manna ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Fabry Disease ◽  
Descriptive Analysis ◽  
Central Italy ◽  
Well Being ◽  
Computer Assisted ◽  
Lysosomal Storage ◽  
Related Quality ◽  
Health Related

Fabry disease (FD) is a genetic disease included in the group of lysosomal storage disorders, caused by X-linked deficiency of the enzyme alpha-galactosidase A. The aim of this study was to evaluate different aspects related to the quality of life (QoL) of a multicentre cohort of Italian patients with FD. An observational survey was conducted to measure health-related quality of life (HR-QoL) in FD patients using the CAPI (Computer-Assisted Personal Interview) method: 106 patients (mostly women) responded to the questionnaire. Geographically, 53.7% of patients lived in northern Italy, 18.9% in central Italy and 27.4% in southern Italy or the Islands. All data were collected through a five-dimensional EuroQoL questionnaire referring to functional aspects (mobility, personal care, routine activities) and perception of physical/mental well-being (pain or discomfort, anxiety or depression). A descriptive analysis of responses was performed; FD patients were compared in terms of QoL with subjects suffering from other chronic diseases, such as Crohn’s disease, chronic hepatitis, cirrhosis and multiple sclerosis. Difficulty in normal daily activities was reported by 47.2% of FD patients. About one third of subjects also had mobility difficulties. Feelings of loneliness and isolation were reported by 33.3% of those being 60–69 years old. Anxiety was equally reported in both oldest and youngest patients (66.7%), while depression, relational problems, fear of other people’s judgement increased along with age, reaching 66.7% in the over-70-years group. Male patients were largely troubled about the risk of physical disability, particularly those aged 60 years or over. Furthermore, FD patients had a poorer QoL than people suffering from other chronic inflammatory disorders. Our study upholds that FD patients have a poor QoL, as already known, negatively impacting psychic well-being and social activities. Our survey has also found a worse QoL in FD patients compared with other severe chronic disorders.

scholarly journals Characterization of ocular involvement in patients with Fabry disease

2020 ◽  
Author(s):  
Yuan Wu ◽  
Xuyang Yao ◽  
Wenjing Song ◽  
Yawen Zhao ◽  
Xiaoming Yan ◽  
...  
Keyword(s):  
Confocal Microscopy ◽  
Fabry Disease ◽  
Retinal Vessel ◽  
Ocular Involvement ◽  
Retinal Layer ◽  
Optical Coherence ◽  
In Vivo Confocal Microscopy ◽  
Ocular Findings ◽  
Vessel Tortuosity

Abstract Background Fabry diseas (FD) is an X-linked recessive lysosomal storage disease that is caused by deficient activity of the lysosomal enzyme α-galactosidase A. Ocular abnormalities have been regarded as characteristic, frequent and easily accessed findings in Fabry disease, and have a high diagnostic value. Some of the ocular findings are easy to find using slit lamps. But some are only visible with the imaging devices such as in vivo confocal microscopy (IVCM) and optical coherence topography (OCT) are prone to be ignored. The aim of this study was to examine the prevalence and characteristics of ocular findings in patients with FD. Result 32 FD patients diagnosed by gene test from one medical center were enrolled. Ocular examinations including slit-lamp examination, ophthalmological fundus imaging, in vivo confocal microscopy as well as optical coherence topography were performed. Among these patients, the prevalence of corneal verticillata was 96.8% (31/32). Corneal examination with in vivo confocal microscopy demonstrated hyper-reflective intracellular inclusions located within the basal epithelial cells. There were no obvious abnormalities in the Bowman’s membrane, stroma or endothelium. Conjunctival vessel malformations were observed in 62.5% (20/32) of patients and retinal vessel tortuosity was observed in 68.7% (22/32) of patients. Optical coherence topography showed many strong hyper-reflective foci in the inner retinal layer, in 62.5% (20/32) patients; the foci may be the images of retinal vascular plexi. Spoke-like opacity of lens was only in two patients. An old retinal artery occlusion was observed in one other patient. Conclusions Corneal verticillata, hyper-reflective foci on OCT, retinal vessel tortuosity and conjunctival vessel malformation show a high prevalence in FD. Epithelium deposition and small vessel malformation may be two basic types of all of these ocular involvements. And these ocular manifestations are characteristic and easily accessible, and should be considered diagnostic criteria for Fabry disease.

Evaluation of choroidal circulation and stromal features in Graves’ disease

2021 ◽  
pp. 112067212110314
Author(s):  
Mustafa Aksoy ◽  
Mert Simsek ◽  
Mahmut Apaydın
Keyword(s):  
Linear Regression Analysis ◽  
Control Group ◽  
Graves Disease ◽  
Ocular Involvement ◽  
Ct Measurements ◽  
Thyrotropin Receptor Antibody ◽  
Significant Difference ◽  
Healthy Control ◽  
And Gender ◽  
And Control

Purpose: This study aimed to evaluate choroidal thickness (CT) and choroidal vascularity index (CVI) in patients with Graves’ disease (GD) without ocular involvement. Methods: Fifty patients diagnosed with GD and 50 age and gender matched healthy control subjects were retrospectively evaluated. Measurements were taken from five different points on CT images. Choroid images were classified as lumen regions (LA) and stromal regions (SA) using the image binarization method. CVI was calculated by dividing LA by the total choroidal area (TCA). The effects of Thyrotropin Receptor Antibody (TRAb), age, GD duration, blood pressure, axial length measurements, and intraocular pressure were analyzed on CT and CVI measurements. Results: Mean age was 40.1 ± 13.5 years in the patient group and 39.3 ± 13.6 years in the control group ( p = 0.89). There was no significant difference between the GD group and control group in terms of CT measurements. There was a significant difference between the mean CVI measurements of the GD group and control group (68.03 ± 3.41 and 66.62 ± 3.11, respectively) ( p < 0.001). Univariate linear regression analysis revealed a positive correlation between TRAb and CVI ( p = 0.013). Conclusion: While there was no significant difference between the CT measurements of the GD group and the control group, the GD group had significantly higher CVI measurements.

scholarly journals Retinal hyperreflective foci in Fabry disease

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Yevgeniya Atiskova ◽  
Rahman Rassuli ◽  
Anja Friederike Koehn ◽  
Amir Golsari ◽  
Lars Wagenfeld ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Fabry Disease ◽  
Functional Limitations ◽  
Control Group ◽  
Fiber Layer ◽  
Cross Sectional ◽  
Retinal Layers ◽  
Hyperreflective Foci ◽  
Vessel Tortuosity ◽  
Sd Oct

Abstract Background Fabry disease (FD) is an X-linked inherited storage disorder caused by deficiency of lysosomal alpha-Galactosidase A. Here we describe new retinal findings in patients with FD assessed by Spectral domain optical coherence tomography (SD-OCT) and their possible clinical relevance. Methods 54 eyes of 27 FD patients and 54 eyes of 27 control subjects were included. The ophthalmic examination included visual acuity testing, tonometry, slit lamp and fundus examination. SD-OCT imaging of the macula was performed in all subjects. Central retinal thickness and retinal nerve fiber layer analysis were quantified. Vessel tortuosity was obtained by a subjective scoring and mathematically calculated. Inner retinal hyperreflective foci (HRF) were quantified, clinically graded and correlated with a biomarker of Fabry disease (lyso-Gb3). Results In comparison to an age-matched control group, a significant amount of HRF was identified in macular SD-OCT images in FD patients. These HRF were localized within the inner retinal layers. Furthermore, lyso-Gb3 levels correlated significantly with the quantitative evaluation of HRF (p < 0,001). In addition, the vessel tortuosity was remarkably increased in FD patients compared to control persons and correlated significantly with lyso-G3 levels (p = 0.005). A further subanalysis revealed significantly higher HRF and vessel tortuosity scores in male patients with the classic FD phenotype. Conclusions The observational, cross sectional, comparative study describes novel intraretinal findings in patients with FD. We were able to identify suspicious HRF within the inner retinal layers. These findings were not accompanied by functional limitations, as visual acuity remained unchanged. However, HRF correlated well with lyso-Gb3, a degradation product of the accumulating protein Gb3 and might potentially indicate Gb3 accumulation within the highly metabolic and densely vascularized macula.

Analysis of Implant Alignment and Early Functional Results of Total Knee Replacement Performed Using Computer Navigation System

2009 ◽  
Vol 16 (3) ◽  
pp. 51-55
Author(s):  
Aleksey Ivanovich Petukhov ◽  
N N Kornilov ◽  
T A Kulyaba ◽  
R M Tikhilov ◽  
A V Selin ◽  
...  
Keyword(s):  
Navigation System ◽  
Sagittal Plane ◽  
Computer Navigation ◽  
Group Versus ◽  
Frontal Plane ◽  
Functional Results ◽  
Control Group ◽  
Computer Assisted ◽  
Computer Navigation System ◽  
Implant Alignment

Knee implant alignment analysis and comparative assessment of functional results of 47 total joint replacements with computer navigation system (main group) versus 50 conventional arthroplasties (control group) were performed. Computer assisted system improved the accuracy of limb alignment after knee arthroplasty and reduced the rate of deviations. The position of femoral component in frontal plane and tibial component in sagittal plane showed statistically reliable differences between two groups (p

scholarly journals Corneal densitometry: a potential indicator for early diagnosis of Fabry disease

2020 ◽  
Author(s):  
Senmao Li ◽  
Robert Siggel ◽  
Yongwei Guo ◽  
Niklas Loreck ◽  
Alexander C. Rokohl ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Fabry Disease ◽  
Retinal Vessel ◽  
Initial Time ◽  
Control Group ◽  
Corneal Densitometry ◽  
Significant Difference ◽  
Densitometry Analysis ◽  
Cornea Verticillata ◽  
Vessel Tortuosity

Abstract Purpose To assess corneal densitometry in patients with Fabry disease (FD) and to compare corneal densitometry differences in FD patients to different corneal manifestations. Methods Ten participants (20 eyes) with FD and 10 age-matched healthy volunteers (20 eyes) were recruited. All participants were assessed by standardized ophthalmic examinations and the corneal densitometry analysis by Pentacam HR. Densitometry measurements were analyzed in standardized grayscale units. Results Seven patients developed conjunctival vessel tortuosity, cornea verticillata appeared in 6 patients, and two patients had Fabry cataract. Retinal vessel tortuosity occurred in 4 patients, and dilation of retinal vessels appeared in 3 patients, all symptoms occurred in both eyes. The first diagnosis of FD up to examination was 4.7 ± 3.23 years, and first ERT up to examination was 2.6 ± 2.27 years. The initial time to diagnosis was negatively related to the corneal densitometry value of the 0–2-mm (r = − 0.556, p = 0.011) and 2–6-mm (r = − 0.482, p = 0.032) zones in the posterior layer. FD group have significantly higher corneal densitometry in anterior 0–2-mm zone and 2–10-mm zone anterior and posterior layer than the control group (p ≤ 0.035, respectively). When divided into two groups by the existence of cornea verticillata, there was a statistically significant difference in the anterior layer, 6–10-mm zone (p = 0.031); in the central layer, 0–2 mm (p = 0.012), 2–6 mm (p = 0.001), 6–10 mm (p = 0.002), and total (p = 0.002); and in the posterior layer, 6–10 mm (p = 0.004) and total (p = 0.002). Conclusions FD patients show higher corneal densitometry, and corneal densitometry may have potential for early diagnosis and reminding progress of FD.

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