The Retinal Vessel Density as a New Vascular Biomarker in Multisystem Involvement in Fabry Disease: An Optical Coherence Tomography Angiography Study

Cennamo, Gilda; Montorio, Daniela; Santoro, Ciro; Cocozza, Sirio; Spinelli, Letizia; Risi, Teodolinda Di; Riccio, Eleonora; Russo, Camilla; Pontillo, Giuseppe; Esposito, Roberta; Imbriaco, Massimo; Pisani, Antonio

doi:10.3390/jcm9124087

Cited by 9 publications

(9 citation statements)

References 46 publications

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“…A recent study by Cennamo et al ( 40 ) evaluated the relationship between the changes in retinal vessel density by OCTA and the vascular alterations involving renal, cardiovascular, and central nervous systems in FD patients: the vessel density of SCP and DCP was inversely related to echocardiographic parameters (early mitral inflow peak velocity to early diastolic mitral annulus peak velocity ratio, left atrial volume index, interventricular septal thickness, global longitudinal strain, and systolic pulmonary artery pressure); however, no relationship was found, with a multivariate analysis, between OCTA parameters and kidney function and neuroradiological signs of central nervous system involvement.…”

Section: Discussionmentioning

confidence: 95%

Optical Coherence Tomography Angiography for the Evaluation of Retinal Vasculature in Fabry Disease: Our Experience and Review of Current Knowledge

et al. 2021

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Purpose: Optical coherence tomography angiography (OCTA) is a non-invasive and objective tool for the evaluation of the retinal microvascular changes in Fabry disease (FD). We investigated changes in retinal vasculature in FD patients, and the possible correlation with systemic parameters, by using OCTA, and reviewed the current status of literature.Methods: Thirteen FD patients (eight females, five males, mean age 49.85 ± 14.7 years) were compared with 13 age- and sex-matched healthy controls. OCTA 3 × 3 mm macular scans were performed in all subjects. We evaluated the vessel density and vessel perfusion in distinct macular areas (whole, inner, and outer) of both the superficial capillary plexus (SCP VD and SCP VP) and of the deep capillary plexus (DCP VD and DCP VP). We also evaluated the foveal avascular zone (FAZ) metrics (area, perimeter, and circularity), and correlation between systemic and OCTA parameters. A literature review on the current understanding of OCTA in FD is then presented.Results: FD patients showed significantly lower SCP VD values in the whole area (17.37 ± 2.08 mm−1 vs. 18.54 ± 1.21 mm−1; p-value 0.022), as well as in the outer area (17.46 ± 2.10 mm−1 vs. 19.08 ± 1.14 mm−1; p-value 0.002), but not in the inner. Even the DCP VD was significantly lower in all the imaged areas: whole (17.75 ± 3.93 mm−1 vs. 19.71 ± 1.20 mm−1; p-value 0.024), outer (18.25 ± 4.17 mm−1 vs. 20.33 ± 1.20 mm−1; p-value 0.023), and inner (19.54 ± 4.17 mm−1 vs. 21.96 ± 1.55 mm−1; p-value 0.011). There were no significant differences in vessel perfusion parameters (both SCP VP and DCP VP ones) and FAZ. No significant correlations were found between the OCTA parameters and systemic parameters (maximal left ventricular wall thickness and glomerular filtration rate) in FD patients.Conclusions: OCTA can be considered as a promising non-invasive tool, which enables a quantitative evaluation of retinal vascular involvement in FD, despite the varying data reported in literature. Our results support the use of OCTA as an objective tool to evaluate retinal vascular abnormalities in FD. The utility of OCTA in FD needs to be validated by longitudinal studies taking into account the overall progression of the disease.

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Section: Discussionmentioning

confidence: 95%

Optical Coherence Tomography Angiography for the Evaluation of Retinal Vasculature in Fabry Disease: Our Experience and Review of Current Knowledge

et al. 2021

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“…One study reported vessel density as increased in the deep capillary plexus and decreased in the superficial capillary plexus [ 63 ]. Another study found no association between any retinal vessel density metrics and Fabry disease [ 62 ]. Regarding foveal avascular zone area, three papers [ 53 , 60 , 64 ] reported no difference between Fabry cases and controls and two papers [ 37 , 61 ] reported enlargement in affected individuals.…”

Section: Resultsmentioning

confidence: 99%

Retinal biomarkers of Cerebral Small Vessel Disease: A systematic review

et al. 2022

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Introduction Cerebral Small Vessel Disease (CSVD), a progressive degenerative disorder of small caliber cerebral vessels, represents a major contributor to stroke and vascular dementia incidence worldwide. We sought to conduct a systematic review of the role of retinal biomarkers in diagnosis and characterization of CSVD. Methods We conducted a systematic review of MEDLINE, PubMed, Scopus, the Cochrane Library Database, and Web of Science. We identified studies of sporadic CSVD (including CSVD not otherwise specified, Cerebral Amyloid Angiopathy, and Hypertensive Arteriopathy) and the most common familial CSVD disorders (including CADASIL, Fabry disease, and MELAS). Included studies used one or more of the following tools: visual fields assessment, fundus photography, Optical Coherence Tomography and OCT Angiography, Fluorescein Angiography, Electroretinography, and Visual Evoked Potentials. Results We identified 48 studies of retinal biomarkers in CSVD, including 9147 cases and 12276 controls. Abnormalities in retinal vessel diameter (11 reports, n = 11391 participants), increased retinal vessel tortuosity (11 reports, n = 617 participants), decreased vessel fractal dimension (5 reports, n = 1597 participants) and decreased retinal nerve fiber layer thickness (5 reports, n = 4509 participants) were the biomarkers most frequently associated with CSVD. We identified no reports conducting longitudinal retinal evaluations of CSVD, or systematically evaluating diagnostic performance. Conclusion Multiple retinal biomarkers were associated with CSVD or its validated neuroimaging biomarkers. However, existing evidence is limited by several shortcomings, chiefly small sample size and unstandardized approaches to both biomarkers’ capture and CSVD characterization. Additional larger studies will be required to definitively determine whether retinal biomarkers could be successfully incorporated in future research efforts and clinical practice.

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“…Changes in A v provide information on vascular integrity 14–18 . Retinal vascular density changes as a possible biomarker have been reported in several other diseases such Alzheimer diseases, mild cognitive impairment, Fabry disease and diabetes mellitus 26–28 . Our control subjects T v ranged from approximately 1.11 to 1.15 pixel/pixel.…”

Section: Discussionmentioning

confidence: 99%

“… 14 , 15 , 16 , 17 , 18 Retinal vascular density changes as a possible biomarker have been reported in several other diseases such Alzheimer diseases, mild cognitive impairment, Fabry disease and diabetes mellitus. 26 , 27 , 28 Our control subjects T v ranged from approximately 1.11 to 1.15 pixel/pixel. Higher T v was observed in arteries (1.17 ± 0.04) and veins (1.17 ± 0.04) of PAH subjects, indicating that retinal T v in treated PAH patients may be abnormally increased.…”

Section: Discussionmentioning

confidence: 99%

Retinal vessel changes in pulmonary arterial hypertension

et al. 2022

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Pulmonary arterial hypertension (PAH) is classically considered an isolated small vessel vasculopathy of the lungs with peripheral pulmonary vascular obliteration. Systemic manifestations of PAH are increasingly acknowledged, but data remain limited. We hypothesized that retinal vascular changes occur in PAH. PAH subjects underwent retinal fluorescein angiography (FA) and routine disease severity measures were collected from the medical record. FA studies were analyzed using VESsel GENerational Analysis (VESGEN), a noninvasive, user‐interactive computer software that assigns branching generation to large and small vessels. FAs from controls (n = 8) and PAH subjects (n = 9) were compared. The tortuosity of retinal arteries was higher in PAH subjects compared to unmatched controls (1.17, 95% confidence interval: [1.14, 1.20] in PAH vs. 1.13, 95% CI: [1.12, 1.14] in controls, p = 0.01). Venous tortuosity was higher and more variable in PAH (1.17, 95% CI: [1.14, 1.20]) compared to controls (1.13, 95% CI: [1.12, 1.15]), p = 0.02. PAH subjects without connective tissue disease had the highest degree of retinal tortuosity relative to controls (arterial, p = 0.01; venous, p = 0.03). Younger PAH subjects had greater retinal arterial tortuosity, which attenuated with age and was not observed in controls. Retinal vascular parameters correlated with some clinical measures of disease in PAH subjects. In conclusion, PAH subjects exhibit higher retinal vascular tortuosity. Retinal vascular changes may track with pulmonary vascular disease progression. Use of FA and VESGEN may facilitate early, noninvasive detection of PAH.

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The Retinal Vessel Density as a New Vascular Biomarker in Multisystem Involvement in Fabry Disease: An Optical Coherence Tomography Angiography Study

Cited by 9 publications

References 46 publications

Optical Coherence Tomography Angiography for the Evaluation of Retinal Vasculature in Fabry Disease: Our Experience and Review of Current Knowledge

Optical Coherence Tomography Angiography for the Evaluation of Retinal Vasculature in Fabry Disease: Our Experience and Review of Current Knowledge

Retinal biomarkers of Cerebral Small Vessel Disease: A systematic review

Retinal vessel changes in pulmonary arterial hypertension

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