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Francesco Bandello - One of the best experts on this subject based on the ideXlab platform.
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short term modifications of ellipsoid zone in best Vitelliform Macular Dystrophy
Retina-the Journal of Retinal and Vitreous Diseases, 2021Co-Authors: Francesco Romano, Francesco Bandello, Alessandro Arrigo, Pier Pasquale Leone, Maurizio Battaglia ParodiAbstract:PURPOSE To assess ellipsoid zone (EZ) alterations in Best Vitelliform Macular Dystrophy using spectral-domain optical coherence tomography. METHODS Prospective, observational case series. Forty-three patients (43 eyes) underwent complete ophthalmological examination at baseline and at 24 months: best-corrected visual acuity (BCVA), biomicroscopy, fundus photography, and spectral-domain optical coherence tomography were performed. Acquisition protocol included 19-line raster scan. Alterations in EZ were marked on spectral-domain optical coherence tomography, and the area was manually calculated on a near-infrared reflectance image. Three patterns were identified: A (decrease >0.25 mm2), B (±0.25 mm2), and C (increase >0.25 mm2). Primary outcome was to describe different patterns of EZ alteration. Secondary outcomes included their correlation with BCVA and the description of a central optically preserved islet. RESULTS At baseline, altered EZ was identified in 40 eyes. Worse BCVA significantly correlated with larger EZ alterations but not with lesion extension on fundus photograph. Only "pattern-C" eyes unveiled BCVA worsening at follow-up. Optically preserved islet was detected in 16 eyes (37%), disclosing significantly better vision; its disappearance at follow-up (n = 7; 44% of 16 eyes) correlated with a decrease in BCVA. CONCLUSION The assessment of EZ status might represent a valuable functional marker in Best Vitelliform Macular Dystrophy because stable alterations and the maintenance of a central optically preserved islet are associated with better visual acuity.
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Macular neovascularization in amd csc and best Vitelliform Macular Dystrophy quantitative octa detects distinct clinical entities
Eye, 2021Co-Authors: Alessandro Arrigo, Francesco Bandello, Emanuela Aragona, Alessandro Bordato, Alessia Amato, Chiara Vigano, Maurizio Battaglia ParodiAbstract:To perform a quantitative optical coherence tomography (OCT) angiography (OCTA) analysis of Macular neovascularization (MNV) secondary to age-related Macular degeneration (AMD), central serous chorioretinopathy (CSC) and best Vitelliform Macular Dystrophy (BVMD), with the aim of highlighting quantitative features indicating different clinical entities. Study design: prospective, interventional. We recruited patients affected by AMD, CSC or BVMD, complicated by naive MNV. All patients underwent complete ophthalmologic examination and multimodal imaging. They were treated with anti-VEGF injections, following a pro-re-nata regimen. The ensuing follow-up lasted 1 year. Quantitative dye-based angiography, OCT, and OCTA parameters were analysed to obtain cutoff values able to distinguish two clinically different patient subgroups for each retinal disease. The main outcome measures were best-corrected visual acuity (BCVA), central Macular thickness, vessel density of superficial, deep and choriocapillaris plexa, vessel tortuosity (VT) of MNV, vessel dispersion of MNV, number of injections, MNV/leakage ratio, MNV size, speckled fluorescence, and outer retinal atrophy. Ninety-eight eyes affected by MNV (98 patients) were analysed. These included 66 eyes affected by AMD, 18 displaying CSC, and 14 eyes with BVMD. BCVA was alike in the three groups, both at baseline and after 1 year (p > 0.05). An MNV VT cutoff of 8.40 at baseline detected two patient subgroups differing significantly in terms of morpho-functional features, found both at baseline and at the end of the follow-up. Quantitative OCTA suggested that the MNV’s VT might be able to provide a better characterization of two different morpho-functional manifestations in AMD, CSC and BVMD.
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multimodal imaging in subclinical best Vitelliform Macular Dystrophy
British Journal of Ophthalmology, 2020Co-Authors: Maurizio Battaglia Parodi, Alessandro Arrigo, Alessandro Calamuneri, Emanuela Aragona, Francesco BandelloAbstract:BACKGROUND To analyse multimodal imaging alterations in the subclinical form of best Vitelliform Macular Dystrophy (BVMD). METHODS The study was designed as an observational, cross-sectional case series. Eleven eyes of 7 subclinical patients with BVMD and 12 age-matched and sex-matched controls were included. Multimodal imaging included fundus blue-light autofluorescence, near-infrared autofluorescence (NIR-AF), structural optical coherence tomography (OCT) and OCT angiography (OCTA). The quantitative analysis included the calculation of the following parameters: vessel density (VD), vessel tortuosity (VT), vessel dispersion (Vdisp), vessel rarefaction (VR), foveal avascular zone (FAZ) area, reflectivity of the outer retinal bands and choriocapillaris porosity (CCP). RESULTS Mean best-corrected visual acuity was 0.0±0.0 LogMAR in both groups. The round central hypoautofluorescent alteration on NIR-AF corresponded to a significant reflectivity attenuation of the outer retinal bands on structural OCT (0.55±0.18 vs 0.75±0.08; p 0.05). The FAZ area turned out to be significantly restricted at the level of the deep capillary plexus in subclinical BVMD eyes (p<0.001). Furthermore, quantitative OCTA revealed a significant central increase of CCP, compared with controls (18.25±2.43 vs 4.58±1.36; p<0.001). CONCLUSIONS The subclinical stage of BVMD is characterised by significant alterations of the outer retinal bands and the choriocapillaris. Quantitative multimodal imaging assessment suggests that subclinical BVMD is affected by the functional impairment of the outer retinal structures, leading to an alteration in melanin and growth factor production.
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natural course of the Vitelliform stage in best Vitelliform Macular Dystrophy a five year follow up study
Graefes Archive for Clinical and Experimental Ophthalmology, 2020Co-Authors: Maurizio Battaglia Parodi, Francesco Romano, Alessandro Arrigo, Carlo Di Nunzio, Alessio Buzzotta, Giorgio Alto, Francesco BandelloAbstract:The Vitelliform stage is the typical phenotypic manifestation of Best Vitelliform Macular Dystrophy (BVMD). As yet, no study has focused specifically on the clinical changes occurring in the Vitelliform stage over the follow-up. The survey takes the form of a prospective observational study with a 5-year follow-up. Twenty-one eyes of 11 patients in the Vitelliform stage were examined annually. The primary outcome was the identification of the changes in the Vitelliform lesion over a 5-year follow-up. Secondary outcomes included changes in structural optical coherence tomography (OCT) parameters and the correlation with the BCVA variation over the follow-up. Spectral domain OCT at baseline showed one subform characterized by solid Vitelliform deposition, in 81% of eyes, and another subform characterized by a combination of solid deposition and subretinal fluid, in 19% of eyes. Overall, 62% of eyes showed an increase in the area of Vitelliform deposition. Once the maximal area was reached, a progressive flattening of the Vitelliform deposition took place, with subsequent flattening of the Vitelliform lesion and formation of subretinal fluid. Hyperreflective foci (HF) increased in number as long as the Vitelliform area continued to expand, with no variation in HF when the Vitelliform lesion flattened or the subretinal fluid formed. The Vitelliform stage reveals more subforms with clinical variations over the follow-up. Our data suggest that the substage before the flattening of the lesion, thus before the so-called subretinal fluid accumulates and when the visual acuity is still high, might offer the best opportunity for an optimal therapeutic approach.
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optical coherence tomography angiography quantitative assessment of Macular neovascularization in best Vitelliform Macular Dystrophy
Investigative Ophthalmology & Visual Science, 2020Co-Authors: Maurizio Battaglia Parodi, Alessandro Arrigo, Francesco BandelloAbstract:Purpose To describe quantitative characteristics of Macular neovascularization (MNV) in Vitelliform Macular Dystrophy (VMD) patients by means of optical coherence tomography angiography (OCTA). Methods The study design was a prospective case series. All patients underwent complete ophthalmologic assessment, optical coherence tomography, and OCTA. The quantitative OCTA parameters examined included vessel tortuosity and vessel dispersion of the MNV. The primary outcome was OCTA characterization of MNV in VMD. Secondary outcomes included the evolution of MNV over the follow-up. Results A total of 78 eyes were recruited for the study. MNV was identified in 50 eyes (64%) at baseline and in 51 eyes (65%) at the end of the follow-up (mean follow-up, 24.7 ± 9.7 months). MNV was detected in four out of the 30 eyes classified as stages 2 and 3 (13%), showing exudative manifestations and undergoing ranibizumab treatment, leading to clinical stabilization. OCTA detected MNV in 46 out of 48 eyes (96%) classified as stages 4 and 5, showing no evidence of exudative manifestation. All of the non-exudative MNVs were merely observed over the follow-up and received no treatment. At the end of the follow-up, 47 out of 48 eyes displayed MNV (98%). Non-exudative MNVs remained stable over the follow-up. Statistically significant differences were found when comparing vessel tortuosity and vessel dispersion in the two MNV subforms. Conclusions VMD is characterized by two MNV subforms. Exudative MNV is rare and may develop in the early stages of the disease, in association with bleeding and fluid formation. Non-exudative MNV develops very commonly in the advanced stage of VMD, without any exudative manifestation.
Maurizio Battaglia Parodi - One of the best experts on this subject based on the ideXlab platform.
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short term modifications of ellipsoid zone in best Vitelliform Macular Dystrophy
Retina-the Journal of Retinal and Vitreous Diseases, 2021Co-Authors: Francesco Romano, Francesco Bandello, Alessandro Arrigo, Pier Pasquale Leone, Maurizio Battaglia ParodiAbstract:PURPOSE To assess ellipsoid zone (EZ) alterations in Best Vitelliform Macular Dystrophy using spectral-domain optical coherence tomography. METHODS Prospective, observational case series. Forty-three patients (43 eyes) underwent complete ophthalmological examination at baseline and at 24 months: best-corrected visual acuity (BCVA), biomicroscopy, fundus photography, and spectral-domain optical coherence tomography were performed. Acquisition protocol included 19-line raster scan. Alterations in EZ were marked on spectral-domain optical coherence tomography, and the area was manually calculated on a near-infrared reflectance image. Three patterns were identified: A (decrease >0.25 mm2), B (±0.25 mm2), and C (increase >0.25 mm2). Primary outcome was to describe different patterns of EZ alteration. Secondary outcomes included their correlation with BCVA and the description of a central optically preserved islet. RESULTS At baseline, altered EZ was identified in 40 eyes. Worse BCVA significantly correlated with larger EZ alterations but not with lesion extension on fundus photograph. Only "pattern-C" eyes unveiled BCVA worsening at follow-up. Optically preserved islet was detected in 16 eyes (37%), disclosing significantly better vision; its disappearance at follow-up (n = 7; 44% of 16 eyes) correlated with a decrease in BCVA. CONCLUSION The assessment of EZ status might represent a valuable functional marker in Best Vitelliform Macular Dystrophy because stable alterations and the maintenance of a central optically preserved islet are associated with better visual acuity.
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Macular neovascularization in amd csc and best Vitelliform Macular Dystrophy quantitative octa detects distinct clinical entities
Eye, 2021Co-Authors: Alessandro Arrigo, Francesco Bandello, Emanuela Aragona, Alessandro Bordato, Alessia Amato, Chiara Vigano, Maurizio Battaglia ParodiAbstract:To perform a quantitative optical coherence tomography (OCT) angiography (OCTA) analysis of Macular neovascularization (MNV) secondary to age-related Macular degeneration (AMD), central serous chorioretinopathy (CSC) and best Vitelliform Macular Dystrophy (BVMD), with the aim of highlighting quantitative features indicating different clinical entities. Study design: prospective, interventional. We recruited patients affected by AMD, CSC or BVMD, complicated by naive MNV. All patients underwent complete ophthalmologic examination and multimodal imaging. They were treated with anti-VEGF injections, following a pro-re-nata regimen. The ensuing follow-up lasted 1 year. Quantitative dye-based angiography, OCT, and OCTA parameters were analysed to obtain cutoff values able to distinguish two clinically different patient subgroups for each retinal disease. The main outcome measures were best-corrected visual acuity (BCVA), central Macular thickness, vessel density of superficial, deep and choriocapillaris plexa, vessel tortuosity (VT) of MNV, vessel dispersion of MNV, number of injections, MNV/leakage ratio, MNV size, speckled fluorescence, and outer retinal atrophy. Ninety-eight eyes affected by MNV (98 patients) were analysed. These included 66 eyes affected by AMD, 18 displaying CSC, and 14 eyes with BVMD. BCVA was alike in the three groups, both at baseline and after 1 year (p > 0.05). An MNV VT cutoff of 8.40 at baseline detected two patient subgroups differing significantly in terms of morpho-functional features, found both at baseline and at the end of the follow-up. Quantitative OCTA suggested that the MNV’s VT might be able to provide a better characterization of two different morpho-functional manifestations in AMD, CSC and BVMD.
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multimodal imaging in subclinical best Vitelliform Macular Dystrophy
British Journal of Ophthalmology, 2020Co-Authors: Maurizio Battaglia Parodi, Alessandro Arrigo, Alessandro Calamuneri, Emanuela Aragona, Francesco BandelloAbstract:BACKGROUND To analyse multimodal imaging alterations in the subclinical form of best Vitelliform Macular Dystrophy (BVMD). METHODS The study was designed as an observational, cross-sectional case series. Eleven eyes of 7 subclinical patients with BVMD and 12 age-matched and sex-matched controls were included. Multimodal imaging included fundus blue-light autofluorescence, near-infrared autofluorescence (NIR-AF), structural optical coherence tomography (OCT) and OCT angiography (OCTA). The quantitative analysis included the calculation of the following parameters: vessel density (VD), vessel tortuosity (VT), vessel dispersion (Vdisp), vessel rarefaction (VR), foveal avascular zone (FAZ) area, reflectivity of the outer retinal bands and choriocapillaris porosity (CCP). RESULTS Mean best-corrected visual acuity was 0.0±0.0 LogMAR in both groups. The round central hypoautofluorescent alteration on NIR-AF corresponded to a significant reflectivity attenuation of the outer retinal bands on structural OCT (0.55±0.18 vs 0.75±0.08; p 0.05). The FAZ area turned out to be significantly restricted at the level of the deep capillary plexus in subclinical BVMD eyes (p<0.001). Furthermore, quantitative OCTA revealed a significant central increase of CCP, compared with controls (18.25±2.43 vs 4.58±1.36; p<0.001). CONCLUSIONS The subclinical stage of BVMD is characterised by significant alterations of the outer retinal bands and the choriocapillaris. Quantitative multimodal imaging assessment suggests that subclinical BVMD is affected by the functional impairment of the outer retinal structures, leading to an alteration in melanin and growth factor production.
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natural course of the Vitelliform stage in best Vitelliform Macular Dystrophy a five year follow up study
Graefes Archive for Clinical and Experimental Ophthalmology, 2020Co-Authors: Maurizio Battaglia Parodi, Francesco Romano, Alessandro Arrigo, Carlo Di Nunzio, Alessio Buzzotta, Giorgio Alto, Francesco BandelloAbstract:The Vitelliform stage is the typical phenotypic manifestation of Best Vitelliform Macular Dystrophy (BVMD). As yet, no study has focused specifically on the clinical changes occurring in the Vitelliform stage over the follow-up. The survey takes the form of a prospective observational study with a 5-year follow-up. Twenty-one eyes of 11 patients in the Vitelliform stage were examined annually. The primary outcome was the identification of the changes in the Vitelliform lesion over a 5-year follow-up. Secondary outcomes included changes in structural optical coherence tomography (OCT) parameters and the correlation with the BCVA variation over the follow-up. Spectral domain OCT at baseline showed one subform characterized by solid Vitelliform deposition, in 81% of eyes, and another subform characterized by a combination of solid deposition and subretinal fluid, in 19% of eyes. Overall, 62% of eyes showed an increase in the area of Vitelliform deposition. Once the maximal area was reached, a progressive flattening of the Vitelliform deposition took place, with subsequent flattening of the Vitelliform lesion and formation of subretinal fluid. Hyperreflective foci (HF) increased in number as long as the Vitelliform area continued to expand, with no variation in HF when the Vitelliform lesion flattened or the subretinal fluid formed. The Vitelliform stage reveals more subforms with clinical variations over the follow-up. Our data suggest that the substage before the flattening of the lesion, thus before the so-called subretinal fluid accumulates and when the visual acuity is still high, might offer the best opportunity for an optimal therapeutic approach.
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optical coherence tomography angiography quantitative assessment of Macular neovascularization in best Vitelliform Macular Dystrophy
Investigative Ophthalmology & Visual Science, 2020Co-Authors: Maurizio Battaglia Parodi, Alessandro Arrigo, Francesco BandelloAbstract:Purpose To describe quantitative characteristics of Macular neovascularization (MNV) in Vitelliform Macular Dystrophy (VMD) patients by means of optical coherence tomography angiography (OCTA). Methods The study design was a prospective case series. All patients underwent complete ophthalmologic assessment, optical coherence tomography, and OCTA. The quantitative OCTA parameters examined included vessel tortuosity and vessel dispersion of the MNV. The primary outcome was OCTA characterization of MNV in VMD. Secondary outcomes included the evolution of MNV over the follow-up. Results A total of 78 eyes were recruited for the study. MNV was identified in 50 eyes (64%) at baseline and in 51 eyes (65%) at the end of the follow-up (mean follow-up, 24.7 ± 9.7 months). MNV was detected in four out of the 30 eyes classified as stages 2 and 3 (13%), showing exudative manifestations and undergoing ranibizumab treatment, leading to clinical stabilization. OCTA detected MNV in 46 out of 48 eyes (96%) classified as stages 4 and 5, showing no evidence of exudative manifestation. All of the non-exudative MNVs were merely observed over the follow-up and received no treatment. At the end of the follow-up, 47 out of 48 eyes displayed MNV (98%). Non-exudative MNVs remained stable over the follow-up. Statistically significant differences were found when comparing vessel tortuosity and vessel dispersion in the two MNV subforms. Conclusions VMD is characterized by two MNV subforms. Exudative MNV is rare and may develop in the early stages of the disease, in association with bleeding and fluid formation. Non-exudative MNV develops very commonly in the advanced stage of VMD, without any exudative manifestation.
Pierluigi Iacono - One of the best experts on this subject based on the ideXlab platform.
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retinal vascular impairment in best Vitelliform Macular Dystrophy assessed by means of optical coherence tomography angiography
American Journal of Ophthalmology, 2017Co-Authors: Maurizio Battaglia Parodi, Pierluigi Iacono, Francesco Romano, Alessandro Arrigo, Maria Vittoria Cicinelli, Alessandro Rabiolo, Luisa Pierro, Francesco BandelloAbstract:Purpose To evaluate vascular abnormalities at superficial (SCP) and deep (DCP) capillary plexuses and choriocapillaris (CC) in patients with Best Vitelliform Macular Dystrophy (BVMD) by means of optical coherence tomography angiography (OCT-A). Design Cross-sectional case series. Methods Sixty-six eyes of 33 patients with BVMD (16 male) and 33 controls were consecutively enrolled. Patients were subdivided into classic stages and underwent best-corrected visual acuity (BCVA), fundus autofluorescence and spectral domain-optical coherence tomography, and 4.5 × 4.5-mm swept-source OCT-A. Choroidal neovascularization (CNV) and capillary dilations were qualitatively assessed by 2 masked ophthalmologists. Each OCT-A slab was imported into ImageJ 1.50 and digitally binarized for quantitative analyses. Foveal avascular zone (FAZ) area was measured manually; vessel density was then quantified after the exclusion of the FAZ pixels. Eyes classified as stages 3 and 4 were evaluated together. Results Nineteen eyes (28.8%) revealed capillary dilations at DCP, 15 of which were in stages 1 and 2. Interestingly, CNV was detected in 24 eyes (36.4%). Quantitative analysis disclosed that stages 3–4 and 5 carry significant impairment at both SCP ( P P = .02, respectively) and DCP ( P P = .0004, respectively) compared to controls. FAZ area was enlarged at the DCP ( P = .001). Only DCP vessel density significantly correlated with the stage and BCVA. Conclusions Patients with BVMD show significant vascular impairment at both superficial and deep retinal plexuses, correlating with functional outcomes. These findings, especially at DCP, may improve our understanding about the pathogenesis, and may help in predicting BVMD treatment efficacy.
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intraretinal hyperreflective foci in best Vitelliform Macular Dystrophy
Retina-the Journal of Retinal and Vitreous Diseases, 2017Co-Authors: Maurizio Battaglia Parodi, Francesco Bandello, Riccardo Sacconi, Francesco Romano, Stefano Casati, Giorgio Marchini, Pierluigi IaconoAbstract:Purpose:To report on the presence of hyperreflective foci (HF) on spectral domain optical coherence tomography in patients with Best Vitelliform Macular Dystrophy (BVMD), and to describe the relationship between HF and stages of the disease.Methods:Consecutive patients diagnosed with BVMD were enrol
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spectral domain optical coherence tomography features in different stages of best Vitelliform Macular Dystrophy
Retina-the Journal of Retinal and Vitreous Diseases, 2017Co-Authors: Maurizio Battaglia Parodi, Pierluigi Iacono, Francesco Romano, Francesco BandelloAbstract:To provide a systematic classification of findings regarding the different stages of Vitelliform Macular Dystrophy on spectral domain optical coherence tomography (SD-OCT). Ninety-four eyes of 47 patients were recruited in a prospective cross-sectional study. All patients underwent a complete ophthalmologic examination, including best-corrected visual acuity using Early Treatment Diabetic Retinopathy Study (ETDRS) charts, biomicroscopy, and SD-OCT. The findings assessed included Vitelliform material, neurosensory detachment, status of external limiting membrane, ellipsoid zone and retinal pigment epithelium, choroidal excavation, foveal cavitation, choroidal neovascularization, vitreoMacular traction, and Macular hole. The primary outcome measure was the identification of SD-OCT findings in each Vitelliform Macular Dystrophy stage. Secondary outcomes included the correlations between SD-OCT features and visual acuity changes. The outer retinal layers (external limiting membrane, ellipsoid zone, and retinal pigment epithelium) were found to be more commonly disrupted in Stages 2 to 4 (range: 86%–100%), whereas their absence was more typical of Stage 5 (71%–86%). Vitelliform material was found in 100% of Stages 2 and 3, 93% of Stage 4, and interestingly in 43% of Stage 5. Eyes characterized by Vitelliform material showed a greater correlation with higher best-corrected visual acuity than eyes without it (0.35 logarithm of the minimum angle of resolution vs. 0.80 ± 0.36 logarithm of the minimum angle of resolution, approximately 20/45 and 20/125 Snellen equivalent, respectively) (t = 3.726, P < 0.05). Moreover, its absence was associated with a best-corrected visual acuity of 0.5 logarithm of the minimum angle of resolution or worse (approximately 20/63 Snellen equivalent; P < 0.05). Subretinal fluid was more common in Stages 3 and 4 (72.7% and 75%, respectively) than Stages 2 and 5 (P = 0.004). Eyes with subretinal fluid were significantly associated with a visual acuity of 0.2 logarithm of the minimum angle of resolution or worse (approximately 20/32 Snellen equivalent; P = 0.04). Spectral domain optical coherence tomography assessment primarily indicates an outer retinal layer disruption in Stages 2 to 4, along with the presence of Vitelliform material extending into the more advanced clinical stages too. Eyes characterized by the persistence of Vitelliform material show better best-corrected visual acuity. Future investigations based on a longitudinal follow-up are warranted to correlate SD-OCT modifications with functional responses to identify SD-OCT indicators for prognostic and therapeutic purposes.
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microperimetry in best Vitelliform Macular Dystrophy
Retina-the Journal of Retinal and Vitreous Diseases, 2017Co-Authors: Maurizio Battaglia Parodi, Pierluigi Iacono, Niccolo Castellino, Itay Chowers, Theodoros Empeslidis, Michaella Goldstein, Francesco BandelloAbstract:Purpose To investigate retinal sensitivity in eyes with all the clinical stages of Best Vitelliform Macular Dystrophy (VMD). Methods Thirty-two patients affected by VMD in subclinical, Vitelliform, pseudohypopyon, vitelliruptive, and atrophic stages were enrolled in this prospective cross-sectional study. Patients underwent a complete ophthalmologic examination, including determination of best-corrected visual acuity (BCVA), staging of the disease (Gass's classification), and microperimetry by means of the Macular integrity assessment microperimeter. The primary outcome measure was to describe the alterations in the retinal sensitivity of eyes affected by VMD in different stages. Secondary outcome measures included correlations between retinal sensitivity and best-corrected visual acuity and the correlation between the VMD stage and the specific microperimetry pattern. Results Mean retinal sensitivity was reduced in all the VMD stages. Nevertheless, Vitelliform, pseudohypopyon, and vitelliruptive stages turned out to be very similar, especially within 10°. Fixation was classified as stable in 27 eyes (44.2%), relatively unstable in 16 eyes (26.2%), and unstable in 18 eyes (29.5%). Fixation stability correlated both with the disease stage and best-corrected visual acuity. Conclusion VMD is characterized by complex microperimetric abnormalities, involving the whole Macular area. Microperimetry may contribute to the global clinical assessment of patients affected by VMD and could be used in future therapeutic approaches.
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optical coherence tomography in best Vitelliform Macular Dystrophy
European Journal of Ophthalmology, 2017Co-Authors: Maurizio Battaglia Parodi, Pierluigi Iacono, Francesco Romano, Gianluigi Bolognesi, Francesco Fasce, Francesco BandelloAbstract:PurposeTo analyze spectral-domain optical coherence tomography (SD-OCT)-specific findings in the different stages of Vitelliform Macular Dystrophy (VMD).MethodsThirty-seven patients were prospectiv...
Giuseppe Querques - One of the best experts on this subject based on the ideXlab platform.
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Multimodal imaging in best Vitelliform Macular Dystrophy
Annals of Eye Science, 2019Co-Authors: Enrico Borrelli, Francesco Bandello, Riccardo Sacconi, Giuseppe QuerquesAbstract:We applaud Lima de Carvalho and colleagues for their well-powered study entitled “Multimodal Imaging in Best Vitelliform Macular Dystrophy” (1).
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central serous chorioretinopathylike mimicking multifocal Vitelliform Macular Dystrophy an ocular side effect of mitogen extracellular signal regulated kinase inhibitors
Retinal Cases & Brief Reports, 2016Co-Authors: Chiara Giuffre, Giuseppe Querques, Elisabetta Miserocchi, Giulio Modorati, Adriano Carnevali, Alessandro Marchese, Lea Querques, Francesco BandelloAbstract:PURPOSE To describe a case of multiple detachments of the neurosensory retina mimicking multifocal Vitelliform Macular Dystrophy after chemotherapy with mitogen/extracellular signal-regulated kinase inhibitor for metastatic ovarian cancer. METHODS Case report. RESULTS A 38-year-old woman presented to our clinic for eye examination before the initiation of chemotherapy with trametinib. One month after starting treatment, the patient complained of vision loss and metamorphopsia in both eyes. Best-corrected visual acuity decreased from 20/20 at baseline to 20/32 in both eyes, and fundus examination revealed multiple detachments of the neurosensory retina with Vitelliformlike appearance, involving the central macula and the posterior pole with a circular distribution along the retinal vascular arcades. Spectral-domain optical coherence tomography showed widespread thickening of the interdigitation zone, particularly in areas with and without detachments, and also some hyporeflective fluid accumulating beneath the detached retina. Mitogen/extracellular signal-regulated kinase inhibitor therapy was discontinued, and after 1 week, best-corrected visual acuity recovered to 20/20 bilaterally, with complete resolution of the serous retinal detachments and normalization of interdigitation zone. CONCLUSION The development of a central serous chorioretinopathylike retinopathy is a relatively common secondary event of mitogen/extracellular signal-regulated kinase inhibitors therapy, and typically, it resolves after the discontinuation of the treatment. Our case is peculiar in that the lesions were bilateral, involving the central macula and the posterior pole with a circular distribution along the retinal vascular arcades and in that the interdigitation zone showed a widespread thickening at spectral-domain optical coherence tomography, mimicking multifocal Vitelliform Macular Dystrophy.
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multimodal analysis of the progression of best Vitelliform Macular Dystrophy
Molecular Vision, 2014Co-Authors: Giuseppe Querques, Nathalie Massamba, Lea Querques, Jennyfer Zerbib, Anouk Georges, Raimondo Forte, Jeanmichel Rozet, Josseline Kaplan, Eric H. SouiedAbstract:PURPOSE To investigate the multimodal morphological features in the different stages of Best Vitelliform Macular Dystrophy (VMD) in subjects harboring mutations in the BEST1 gene, and their changes during the progression of the disease. METHODS In this retrospective observational study performed between January 2007 and December 2012, 21 patients (42 eyes) with Best VMD from eight families with the BEST1 mutation were included. Best-corrected visual acuity (BCVA), fundus autofluorescence (FAF), and spectral domain optical coherence tomography (SDOCT) were evaluated at study entry and at last visit. RESULTS The mean age of patients was 26.3±17.4 years. Seven new missense mutations in BEST1 were identified. Mean follow-up was 41.1±18.5 months. Mean BCVA was 0.34±0.34 LogMAR at study entry and 0.32±0.33 LogMAR at last follow-up visit (p = 0.2). The overall lesion area on FAF increased from 6.62±4.9 mm² to 7.34±6.1 mm² (p = 0.05). At study entry, on SD-OCT, photoreceptor inner segment ellipsoid portion (ellipsoid zone, EZ) was normal in 15 eyes, disrupted in 14 eyes, and absent in 13 eyes. In two eyes, EZ changed from normal to disrupted during follow-up. Three eyes of three patients showing pseudohypopyon lesions at study entry progressed to vitelliruptive lesions at the last follow-up visit. Three eyes of three patients showing vitelliruptive lesion at study entry reverted to pseudohypopyon lesion with overall enlargement of the lesion size. CONCLUSIONS Multimodal analysis allowed documenting a continuous material accumulation and reabsorption in Best VMD progression. Blue FAF and SD-OCT could represent noninvasive imaging techniques to monitor Best VMD.
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the spectrum of subclinical best Vitelliform Macular Dystrophy in subjects with mutations in best1 gene
Investigative Ophthalmology & Visual Science, 2011Co-Authors: Giuseppe Querques, Lea Querques, Jennyfer Zerbib, Jeanmichel Rozet, Josseline Kaplan, R Santacroce, Maurizio Margaglione, Nathalie Delphin, Eric H. SouiedAbstract:Purpose To describe the morphologic and functional characteristics of subclinical Best Vitelliform Macular Dystrophy (VMD) in subjects with mutation in the BEST1 gene. Methods Best-corrected visual acuity (BCVA), funduscopic appearance, fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT), and electro-oculography (EOG) were assessed in 23 consecutive subjects from nine unrelated families with known mutations in the BEST1 gene (eight distinct BEST1 mutations). Results Six subjects were identified with BEST1 mutations (three male, three female; aged 8 to 30 years) without clinically detectable (subclinical) Best VMD (absence of both symptoms and funduscopic lesions). All six subjects showed 20/20 BCVA and normal FAF findings. In these 6 of 26 subjects from five different families, we found five distinct mutations in the BEST1 gene. In three (six eyes) out of these six subjects with BEST1 gene mutations (two families: p.G15D; p.A243V), SD-OCT showed overall normal findings. In the other three subjects (six eyes) with BEST1 gene mutations (three families: p.V9A; p.R92C; p.I230T), we found, on SD-OCT, a thicker and more reflective appearance of the layer between the retinal pigment epithelium and the interface of inner segments and outer segments of the photoreceptor (the Verhoeff's membrane). EOG showed a reduced light-peak:dark-trough ratio in 5 of 12 eyes. Changes on SD-OCT were present in the absence of EOG abnormalities (two of six eyes), and vice versa (one of six eyes). Conclusions Subclinical Best VMD (absence of both symptoms and funduscopic lesions) in subjects with BEST1 mutation may vary from the absence of any morphologic and functional abnormalities to the presence of specific SD-OCT and EOG changes.
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preferential hyperacuity perimeter in best Vitelliform Macular Dystrophy
Retina-the Journal of Retinal and Vitreous Diseases, 2011Co-Authors: Giuseppe Querques, K Atmani, Rislie Bouzitoumfoumou, Nicolas Leveziel, Nathalie Massamba, Eric H. SouiedAbstract:PURPOSE To determine the visual field patterns obtained by the preferential hyperacuity perimetry (PHP) in patients with Best Vitelliform Macular Dystrophy with mutations in the BEST1 gene. METHODS Consecutive patients with Best Vitelliform Macular Dystrophy underwent a complete ophthalmologic examination, including functional assessment by best-corrected visual acuity and Foresee PHP and morphologic assessment by fundus biomicroscopy, fundus autofluorescence, and spectral-domain optical coherence tomography. The functional "PHP visual field defect index" (which is the max peak value of the metamorphopsia [maximal distortion value at the visual field] + the max peak value of the scotoma [maximal scotoma value at the visual field]) and best-corrected visual acuity were analyzed about the disease stage. RESULTS Thirty eyes of 15 consecutive patients (8 men and 7 women; mean age 39 ± 24 years) were included for analysis. Based on fundus biomicroscopy, fundus autofluorescence, and spectral-domain optical coherence tomography, the Macular lesions could be counted as follows: preVitelliform lesions in 5 eyes of 3 patients (Stage 1), Vitelliform lesions in 2 eyes of 2 patients (Stage 2), pseudohypopyon lesions in 6 eyes of 5 patients (Stage 3), vitelliruptive lesions in 4 eyes of 3 patients (Stage 4), atrophic lesions in 7 eyes of 5 patients (Stage 5), and fibrotic lesions in 6 eyes of 4 patients (Stage 6). Best-corrected visual acuity and PHP visual field defect index were averaged for each stage. Best-corrected visual acuity showed a good correlation (P = 0.01) with the morphologic severity (stage) of the disease (Pearson correlation = -0.88). Similarly, the PHP visual field defect index showed a good correlation (P = 0.03) with the morphologic severity (stage) of the disease (Pearson correlation = 0.78). Finally, best-corrected visual acuity showed a good correlation (P = 0.02) with the functional PHP visual field defect index (Pearson correlation = -0.83) about the morphologic stage of the disease. CONCLUSION Preferential hyperacuity perimetry could be considered an adjunctive useful tool in the evaluation of functional impairment and disease progression in patients with Best Vitelliform Macular Dystrophy.
Janet R Sparrow - One of the best experts on this subject based on the ideXlab platform.
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stage dependent choriocapillaris impairment in best Vitelliform Macular Dystrophy characterized by optical coherence tomography angiography
Scientific Reports, 2021Co-Authors: Ruben Jauregui, S Tsang, Rait Parmann, Yan Nuzbrokh, Janet R SparrowAbstract:Characterization of vascular impairment in Best Vitelliform Macular Dystrophy (BVMD) is essential for the development of treatment modalities and therapy trials. As such, we seek to characterize the choriocapillaris (CC) at each stage of the disease process in 22 patients (44 eyes) with a diagnosis of BVMD confirmed by genetic sequencing. We utilize optical coherence tomography angiography (OCTA) images to characterize the CC and correlate our findings to the status of the retinal pigment epithelium (RPE) as observed on short-wavelength fundus autofluorescence (SW-AF) images. We observed that in the vitelliruptive stage, the CC appeared as bright and granular in the area where the Vitelliform lesion was present. In the atrophic stage, varying degrees of CC atrophy were observed within the lesion area, with the regions of CC atrophy appearing as hypoautofluorescent on SW-AF images. Our results suggest that the CC impairment observed in the vitelliruptive stage of BVMD progressively culminates in the CC atrophy observed at the atrophic stage. As such, OCTA imaging can be used to characterize CC impairment in BVMD patients as part of diagnosis and tracking of disease progression. Our findings suggest that the best window of opportunity for therapeutic approaches is before the atrophic stage, as it is during this stage that CC atrophy is observed.
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multimodal imaging in best Vitelliform Macular Dystrophy
Investigative Ophthalmology & Visual Science, 2019Co-Authors: S Tsang, Jose Ronaldo Lima De Carvalho, Maarjaliis Paavo, Lijuan Chen, John Chiang, Janet R SparrowAbstract:Purpose In patients diagnosed with Best Vitelliform Macular Dystrophy (BVMD), quantitative fundus autofluorescence (qAF), near-infrared fundus autofluorescence (NIR-AF), and spectral-domain optical coherence tomography (SD-OCT) were used to elucidate pathogenic mechanisms. Methods Fourteen patients heterozygous for BEST1 mutations were recruited. qAF was analyzed using short-wavelength fundus autofluorescence (SW-AF) images. Mean gray levels (GL) were determined in nonlesion areas (7 to 9° eccentricity) and adjusted by GL measured in an internal fluorescent reference. NIR-AF images (787 nm; sensitivity of 96) were captured and saved in non-normalized mode. Horizontal SD-OCT images also were acquired and BVMD was staged according to the OCT findings. Results In the pre-Vitelliform stage, NIR-AF imaging revealed an area of reduced fluorescence, whereas in the vitelliruptive stage, puncta of elevated NIR-AF signal were present. In both SW-AF and NIR-AF images, the Vitelliform lesion in the atrophic stage was marked by reduced signal. At all stages of BVMD, nonlesion qAF was within the 95% confidence intervals for healthy eyes. Similarly, the NIR-AF intensity measurements outside the Vitelliform lesion were comparable to the healthy control eye. SD-OCT scans revealed a fluid-filled detachment between the ellipsoid zone and the hyperreflectivity band attributable to RPE/Bruch's membrane. Conclusions NIR-AF imaging can identify the pre-Vitelliform stage of BVMD. Mutations in BEST1 are not associated with increased levels of SW-AF outside the Vitelliform lesion. Elevated SW-AF within the fluid-filled lesion likely reflects the inability of RPE to phagocytose outer segments due to separation of RPE from photoreceptor cells, together with progressive photoreceptor cell impairment.
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quantitative fundus autofluorescence in best Vitelliform Macular Dystrophy rpe lipofuscin is not increased in non lesion areas of retina
Advances in Experimental Medicine and Biology, 2016Co-Authors: Janet R Sparrow, Tobias Duncker, Russell L Woods, Francois C DeloriAbstract:Since the lipofuscin of retinal pigment epithelial (RPE) cells has been implicated in the pathogenesis of Best Vitelliform Macular Dystrophy, we quantified fundus autofluorescence (quantitative fundus autofluorescence, qAF) as an indirect measure of RPE lipofuscin levels. Mean non-lesion qAF was found to be within normal limits for age. By spectral domain optical coherence tomography (SD-OCT) Vitelliform lesions presented as fluid-filled subretinal detachments containing reflective material. We discuss photoreceptor outer segment debris as the source of the intense fluorescence of these lesions and loss of anion channel functioning as an explanation for the bullous photoreceptor-RPE detachment. Unexplained is the propensity of the disease for central retina.
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quantitative fundus autofluorescence and optical coherence tomography in best Vitelliform Macular Dystrophy
Investigative Ophthalmology & Visual Science, 2014Co-Authors: Tobias Duncker, S Tsang, Russell L Woods, Francois C Delori, Jonathan P Greenberg, Rithambara Ramachandran, Donald C Hood, Theodore R Smith, Tatsuo Hirose, Janet R SparrowAbstract:PURPOSE Quantitative fundus autofluorescence (qAF), spectral domain optical coherence tomography (SD-OCT) segmentation, and multimodal imaging were performed to elucidate the pathogenesis of Best Vitelliform Macular Dystrophy (BVMD) and to identify abnormalities in lesion versus nonlesion fundus areas. METHODS Sixteen patients with a clinical diagnosis of BVMD were studied. Autofluorescence images (30°, 488-nm excitation) were acquired with a confocal scanning laser ophthalmoscope equipped with an internal fluorescent reference to account for variable laser power and detector sensitivity. The grey levels (GLs) of each image were calibrated to the reference, zero GL, magnification, and normative optical media density, to yield qAF. Horizontal SD-OCT scans were obtained and retinal layers manually segmented. Additionally, color and near-infrared reflectance (NIR-R) images were registered to AF images. All patients were screened for mutations in BEST1. In three additional BVMD patients, in vivo spectrofluorometric measurements were obtained within the Vitelliform lesion. RESULTS Mean nonlesion qAF was within normal limits for age. Maximum qAF within the lesion was markedly increased compared with controls. By SD-OCT segmentation, outer segment equivalent thickness was increased and outer nuclear layer thickness decreased in the lesion. Changes were also present in a transition zone beyond the lesion border. In subclinical patients, no abnormalities in retinal layer thickness were identified. Fluorescence spectra recorded from the Vitelliform lesion were consistent with those of retinal pigment epithelial cell lipofuscin. CONCLUSIONS Based on qAF, mutations in BEST1 do not cause increased lipofuscin levels in nonlesion fundus areas.
