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2. Hyper-reflective foci changes in RRMS under natalizumab therapy.

Author

Puthenparampil, Marco, Basili, Elisa, Ponzano, Marta, Mauceri, Valentina Annamaria, Miscioscia, Alessandro, Pilotto, Elisabetta, Perini, Paola, Rinaldi, Francesca, Bovis, Francesca, and Gallo, Paolo

Subjects
OPTICAL coherence tomography, DISEASE relapse, MULTIPLE sclerosis, NATALIZUMAB, IMMUNOPATHOLOGY
Abstract

Introduction: Microglia (MG) is suggested to play an immunopathological role of in Multiple Sclerosis (MS). Since hyper-reflective foci (HRF) might mark MG activation, in vivo analysis by Optic Coherence Tomography (OCT) in MS patients under disease modifying therapies may help to clarify MS immunopathology as well as drug's mechanism of intrathecal action. Objective: To analyze HRF in patients treated with Natalizumab (NTZ), a high efficacy therapy for MS. Materials and methods: The effect of NTZ on the retina of 36 Relapsing-Remitting MS patients was investigated in a prospective, single-center study. OCT was performed immediately before the first infusion and then between infusion 3 and 4, infusion 6 and 7, infusion 11 and 13. Peripapillary and macular scans were acquired, evaluating peripapillary RNFL thickness, macular volumes (vertical scans), and HRF count (horizontal scan) in Ganglion Cell Layer (GCL), Inner Plexiform Layer (IPL) and Inner Nuclear Layer (INL). Clinical examination was performed every six months. Results: HRF count significantly increased under NTZ therapy (p<0.001) in both GCL (18.85 ± 6.93 at baseline, 28.24 ± 9.55 after 12 months) and IPL (25.73 ± 7.03 at baseline, 33.21 ± 8.50 after 12 months) but remained stable in INL (33.65 ± 7.76 at baseline, 36.06 ± 6.86 after 12 months, p=0.87), while no relevant modification of pRNFL and macular volumes were observed during the study. EDSS remained stable and no clinical relapse was observed between month 6 and 12. Conclusion: In RRMS NTZ affects HRF count in GCL and IPL, but not in INL, suggesting that NTZ does not impact on some aspects of MS immunopathology. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Outer Retinal and Choroidal Changes in Adolescents with Long-Lasting Type 1 Diabetes.

Author

Pilotto, Elisabetta, Cosmo, Eleonora, Torresin, Tommaso, Coppola, Marco, Gutierrez De Rubalcava Doblas, Joaquin, Midena, Giulia, Moretti, Carlo, and Midena, Edoardo

Subjects
*TYPE 1 diabetes, *RHODOPSIN, *OPTICAL coherence tomography, *INSULIN therapy, *DIABETIC retinopathy
Abstract

This study aimed to assess outer retinal layer (ORL), retinal pigment epithelium (RPE), choroid (Ch) and choriocapillaris (CC) modifications in adolescents with long-lasting (>10 years) type 1 diabetes (T1D) without (noDR) or with diabetic retinopathy (DR). ORL and RPE thickness were measured at optical coherence tomography (OCT) macular scans. Vascular parameters of Ch and CC were quantified after elaboration of macular OCT-angiography (OCTA) images. Insulin dose and auxological and metabolic parameters were correlated with OCT and OCTA findings in patients. ORL thickness was higher in DR eyes than in noDR and healthy controls (HC), and RPE thickness was higher in noDR and DR eyes than in HC, with statistical significance for some sectors in noDR versus HC. No OCTA parameters of CC and Ch differed among groups, and no significant correlation was observed with auxological and metabolic parameters. In conclusion, ORL and RPE were both increased in adolescents with long-lasting T1D. Such changes were not associated with insulin dose and glycemia control, nor to any choroid or choriocapillaris flow change clinically detectable at OCTA, and they could be potential imaging biomarkers of disease progression. [ABSTRACT FROM AUTHOR]

Published
2024
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15. The ideal intravitreal injection setting: office, ambulatory surgery room or operating theatre? A narrative review and international survey.

Author

Veritti, Daniele, Sarao, Valentina, Chhablani, Jay, Loewenstein, Anat, Lanzetta, Paolo, Società Italiana della Retina (SIR) Study Group, Bandello, Francesco, Midena, Edoardo, Nicolò, Massimo, Parravano, Mariacristina, Pilotto, Elisabetta, Ricci, Federico, Staurenghi, Giovanni, Virgili, Gianni, Intravitreal Injection Setting Study Group (I2SG), Arnold, Jennifer J., Augustin, Albert J., Creuzot-Garcher, Catherine, Adrian, Monica Lövestam, and Mekjavić, Polona Jaki

Subjects
INTRAVITREAL injections, AMBULATORY surgery, MEDICAL offices, OPERATING rooms, LITERATURE reviews, VASCULAR endothelial growth factors
Abstract

Purpose: This study reviews evidence and provides recommendations for the ideal setting of intravitreal injection (IVI) administration of vascular endothelial growth factor (VEGF) inhibitors. Methods: A multi-step approach was employed, including content analysis of regulations and guidelines, a systematic literature review, and an international survey assessing perioperative complications and endophthalmitis incidence in relation to injection settings. The literature review searched PubMed and Cochrane databases from 2006 to 2022, focusing on studies reporting correlations between complications and treatment settings. The survey utilized a web-based questionnaire distributed to clinical sites and the international ophthalmic community, with data managed using electronic capture tools. Results: We reviewed regulations and guidelines from 23 countries across five continents, finding significant variation in IVI administration settings. In most countries, IVI is primarily administered in outpatient clean rooms (96%) or offices (39%), while in others, it is restricted to ambulatory surgery rooms or hospital-based operating theatres (4%). The literature review found that endophthalmitis risk after IVI is generally low (0.01% to 0.26% per procedure), with no significant difference between office-based and operating room settings. The international survey (20 centers, 96,624 anti-VEGF injections) found low overall incidences of severe perioperative systemic adverse events and endophthalmitis, independent of injection settings. Conclusion: No significant differences in perioperative complications were observed among various settings, including operating theatres, ambulatory surgery rooms, offices, hospitals, or extra-hospital environments. Choosing the appropriate clinical setting can optimize patient management, potentially increasing effectiveness, quality, productivity, and capacity. [ABSTRACT FROM AUTHOR]

Published
2023
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18. Validation of an Automated Artificial Intelligence Algorithm for the Quantification of Major OCT Parameters in Diabetic Macular Edema

Author

Midena, Edoardo, primary, Toto, Lisa, additional, Frizziero, Luisa, additional, Covello, Giuseppe, additional, Torresin, Tommaso, additional, Midena, Giulia, additional, Danieli, Luca, additional, Pilotto, Elisabetta, additional, Figus, Michele, additional, Mariotti, Cesare, additional, and Lupidi, Marco, additional

Published
2023
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19. Current management of patients with RPE65 mutation-associated Inherited Retinal Degenerations (RPE65-IRD) in Europe. Results of a 2 years follow-up multinational survey

Author

Lorenz, Birgit, primary, Tavares, Joana, additional, van den Born, L. Ingeborgh, additional, Marques, João Pedro, additional, Pilotto, Elisabetta, additional, Stingl, Katarina, additional, Charbel Issa, Peter, additional, Leroux, Dorothée, additional, Dollfus, Hélène, additional, and Scholl, Hendrik P.N., additional

Published
2023
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21. Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network - EVICR.net

Author

Lorenz, Birgit, Tavares, Joana, van den Born, L Ingeborgh, Marques, João Pedro, Pilotto, Elisabetta, Stingl, Katarina, Charbel Issa, Peter, Leroux, Dorothée, Dollfus, Hélène, and Scholl, Hendrik P N

Subjects
Europe, Cellular and Molecular Neuroscience, Ophthalmology, ERN-EYE health care providers, EVICR.net clinical centers, Inherited retinal degenerations, Management, General Medicine, Sensory Systems
Abstract

Introduction: An increasing number of gene-specific therapies are being developed for inherited retinal degenerations (IRDs). Identification of well-characterized patients is an emerging need. We conducted the second multinational survey among the EVICR.net and ERN-EYE members to understand the management and treatment of IRDs in Europe and compared it to the 2019 survey. Methods: An electronic survey questionnaire was developed and sent to 124 clinical centers (25 countries) by June/July 2021. Statistical analysis was performed with Excel and R. Results: The overall response rate was 44% but varied among countries. Only 9% of responding centers do not see IRD patients (2019 survey 14%), 42% follow at least 200 patients per year, 18% follow 500–999, and 2% more than 1,000. Databases exist in 86% of the centers (local 86%; national web based 12%). IRD patients are referred to EVICR.net and ERN-EYE centers mainly by general ophthalmologists, patient self-referral, or medical retina specialists. Most IRD patients are first seen as adults. Signs and symptoms depend on age of onset: in infancy, nystagmus; at older age, night blindness and reduced visual field; reduced visual acuity is described at any age. Comprehensive ophthalmic examination always includes visual acuity and almost always visual field multimodal retinal imaging, electrophysiology, color vision testing, and refraction. Identification of genotypes is successful in 72% of centers in 40–80% of cases (2019 survey 69% of centers). The time for confirmation of the genetic diagnosis varies from 2–4 weeks to 24 months (2019 survey >4 weeks ≤10 years). Genetic testing is covered by public health service in 83%, private health insurance in 29%, research funds in 24%; 5% do not have access to genetic testing (2019 survey 15%). The most striking result is the high increase in the involvement of centers in natural history and gene therapy trials that more than doubled for the latter. Discussion: This second multinational survey on management of IRDs in Europe highlights persistent important differences in the number of IRD patients managed per center, comparable diagnostic work-up, and increasing genotyping in diagnostic laboratories. The important increase in involvement of centers in natural history and gene therapy trials reflects the rapidly evolving field of gene therapy development. The survey provides important follow-up data for researchers, clinicians, caregivers, patient advocate groups, pharmaceutical companies, and investors.

Published
2023

31. Hyper-Reflecting Foci in Multiple Sclerosis Retina Associate With Macrophage/Microglia-Derived Cytokines in Cerebrospinal Fluid

Author

Puthenparampil, Marco, primary, Torresin, Tommaso, additional, Franciotta, Silvia, additional, Marin, Annachiara, additional, De Napoli, Federica, additional, Mauceri, Valentina Annamaria, additional, Miante, Silvia, additional, Pilotto, Elisabetta, additional, Midena, Edoardo, additional, and Gallo, Paolo, additional

Published
2022
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41. Novel approaches to the assessment and treatment of lamellar macular hole.

Author

Frisina, Rino, Tozzi, Luigi, Gius, Irene, Pilotto, Elisabetta, and Midena, Edoardo

Subjects
PERIMETRY, BIOFLUORESCENCE, VISUAL acuity, OPTICAL coherence tomography
Abstract

Purpose: To analyse morpho‐functional foveal changes in eyes with lamellar macular hole (LMH) by an integrated assessment of short‐wavelength fundus autofluorescence (SW‐FAF) and microperimetry (SW‐FAF/microperimetry integrated assessment) before and after treatment with a technique of double‐inverted flaps of epiretinal proliferation (EP) and internal limiting membrane (ILM). Methods: Clinical and tomographic parameters were best‐corrected visual acuity (BCVA), LMH size, central retinal thickness (CRT) and outer retinal layer integrity. SW‐FAF/microperimetry integrated assessment allowed to analyse retinal sensitivity (RS) and FAF status of the fovea by an overlay of RS map on SW‐FAF image. Follow‐up was at baseline, 1, 3, 6 and 12 postoperative months. Results: Forty pseudophakic eyes. Hyper‐FAF area was associated with larger LMH size (p = 0.0073) and inversely correlated with CRT (p = 0.021). Lower preoperative RS was observed in hyper‐FAF than normo‐FAF areas (p = 0.0117). External limiting membrane (ELM) defect was associated with worse BCVA (p = 0.0004). After surgery, BCVA improved (p = 0.001) and it was related to ELM recovery (p = 0.00483), hyper‐FAF area decreased (p = 0.001), and RS increased (p = 0.440). Hyper‐FAF points that normalized their FAF were associated with higher RS improvement compared to unchanged points. Conclusion: Short‐wavelength fundus autofluorescence/microperimetry integrated assessment provides important information on the entity of damage of LMH and on postoperative recovery. Double‐inverted EP and ILM flap technique is safe and effective for LMH treatment. [ABSTRACT FROM AUTHOR]

Published
2022
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44. RETINAL VASCULAR ABNORMALITIES RELATED TO NEUROFIBROMATOSIS TYPE 1

Author

Parrozzani, Raffaele, primary, Frizziero, Luisa, additional, Trainiti, Sara, additional, Calciati, Andrea, additional, Londei, Davide, additional, Miglionico, Giacomo, additional, Trevisson, Eva, additional, Midena, Giulia, additional, Pilotto, Elisabetta, additional, and Midena, Edoardo, additional

Published
2021
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46. Two novel compound heterozygous SAGmutations in an Italian patient with Oguchi disease: A genetic and multimodal retinal imaging study

Author

Pilotto, Elisabetta, Trevisson, Eva, Nacci, Elisabetta Beatrice, Longhin, Evelyn, Guidolin, Francesca, and Midena, Edoardo

Abstract

Background: Oguchi disease is a rare autosomal recessive retinal dystrophy, characterized by congenital stationary blindness and caused by pathogenic variants in SAGand GRK1genes. The present study aimed to report an Italian patient affected by Oguchi disease, evaluated by means of a multimodal retinal imaging study and harboring two novel heterozygous pathogenic variants in the SAGgene.Materials and methods: A 60-year-old female complaining congenital stationary night blindness was investigated through fundus photograph, optical coherence tomography (OCT), electroretinography (ERG), and genetic testing.Results: Fundus examination showed a golden-grayish fundus aspect. The rod response of the scotopic ERG was undetectable and mixed rod-cone response was electronegative. Fundus photographs obtained in light and in prolonged dark-adapted conditions allowed to detect the Mizuo-Nakamura phenomenon. Light condition OCT over the abnormal retinal regions showed high-intensity areas in the outer photoreceptor segment layer, that reduced with prolonged dark adaption. Genetic testing identified two rare heterozygous sequence variants in the SAGgene: NM_000541.5:c.807delA p.(Glu270Lysfs*9) and NM_000541.5:c.1047-1G>C confirming the diagnosis of Oguchi disease.Conclusions: We identified the first Italian compound heterozygous patient harboring two novel alterations in the SAGgene (a frameshift deletion and a splicing variant). The involvement of the SAGgene in Oguchi disease is a common finding in Japanese population, but rarely identified in Caucasians. Clinical suspicion should prompt the molecular analysis of genes associated with this condition.

Published
2022
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48. Effect of COVID-19-related lockdown on ophthalmic practice in Italy: A report from 39 institutional centers

Author

dell’Omo, Roberto, primary, Filippelli, Mariaelena, additional, Virgili, Gianni, additional, Bandello, Francesco, additional, Querques, Giuseppe, additional, Lanzetta, Paolo, additional, Avitabile, Teresio, additional, Viola, Francesco, additional, Reibaldi, Michele, additional, Semeraro, Francesco, additional, Quaranta, Luciano, additional, Rizzo, Stanislao, additional, Midena, Edoardo, additional, Campagna, Giuseppe, additional, Costagliola, Ciro, additional, Marolo, Paola, additional, Traverso, Carlo Enrico, additional, Iester, Michele, additional, Cutolo, Carlo Alberto, additional, Azzolini, Claudio, additional, Donati, Simone, additional, Premi, Elias, additional, Nucci, Paolo, additional, Vujosevic, Stela, additional, Staurenghi, Giovanni, additional, Bottoni, Ferdinando, additional, Romano, Francesco, additional, Grosso, Domenico, additional, Borrelli, Enrico, additional, Sacconi, Riccardo, additional, Milella, Paolo, additional, Ganci, Simone, additional, Romano, Mario R., additional, Ricciardelli, Gabriella, additional, Allegrini, Davide, additional, Casaluci, Marco, additional, Romano, Davide, additional, Marchini, Giorgio, additional, Chemello, Francesca, additional, Amantea, Camilla, additional, Frisina, Rino, additional, Pilotto, Elisabetta, additional, Parrozzani, Raffaele, additional, Veritti, Daniele, additional, Sarao, Valentina, additional, Daniele, Tognetto, additional, Busin, Massimo, additional, Parmeggiani, Francesco, additional, De Nadai, Katia, additional, Furiosi, Luca, additional, Mastropasqua, Rodolfo, additional, Battaglia, Bruno, additional, Gironi, Matteo, additional, Gandolfi, Stefano, additional, Luciani, Enrico, additional, Mora, Paolo, additional, Schiavi, Costantino, additional, Bertaccini, Patrizia, additional, Finzi, Alessandro, additional, Roda, Matilde, additional, Cagini, Carlo, additional, Lupidi, Marco, additional, Giansanti, Fabrizio, additional, Bacherini, Daniela, additional, Tosi, Gianmarco, additional, De Benedetto, Elena, additional, Nardi, Marco, additional, Figus, Michele, additional, Posarelli, Chiara, additional, Mariotti, Cesare, additional, Pirani, Vittorio, additional, Nicolai, Michele, additional, Bonini, Stefano, additional, Coassin, Marco, additional, Di Zazzo, Antonio, additional, Savastano, Mariacristina, additional, Savastano, Alfonso, additional, Gambini, Gloria, additional, Vico, Umberto De, additional, Spadea, Leopoldo, additional, Iannaccone, Andrea, additional, Nucci, Carlo, additional, Ricci, Federico, additional, Aiello, Francesco, additional, Afflitto, Gabriele Gallo, additional, Mastropasqua, Leonardo, additional, D’Onofio, Giada, additional, Evangelista, Federica, additional, Brescia, Lorenza, additional, Napolitano, Pasquale, additional, Polisena, Paolo, additional, Gianfrancesco, Nicolina, additional, Trivisonno, Domenico, additional, Petti, Francesco, additional, Simonelli, Francesca, additional, Rossi, Settimio, additional, Tartaglione, Antonio, additional, Rosa, Nicola, additional, Bernardo, Maddalena De, additional, Iaculli, Cristiana, additional, Valeria Bux, Anna, additional, Maggiore, Giulia, additional, Boscia, Francesco, additional, Sborgia, Giancarlo, additional, Grassi, Maria Oliva, additional, Scorcia, Vincenzo, additional, Giannaccare, Giuseppe, additional, Parisi, Guglielmo, additional, Cillino, Salvatore, additional, Alaimo, Francesco, additional, Aragona, Pasquale, additional, Meduri, Alessandro, additional, Pinna, Antonio, additional, Sollazzo, Andrea, additional, Peiretti, Enrico, additional, and Siotto, Emanuele, additional

Published
2021
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49. Real-life patient journey in neovascular age-related macular degeneration: a narrative medicine analysis in the Italian setting

Author

Midena, Edoardo, primary, Varano, Monica, additional, Pilotto, Elisabetta, additional, Staurenghi, Giovanni, additional, Camparini, Monica, additional, Pece, Alfredo, additional, Battaglia Parodi, Maurizio, additional, Vadalà, Maria, additional, Donati, Simone, additional, Frizziero, Luisa, additional, Fiorencis, Alessandra, additional, Marini, Maria Giulia, additional, and Reale, Luigi, additional

Published
2021
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