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Retina June 2024

Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy

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Francesco Testa; Ester Carreño; L. Ingeborgh van den Born; Paolo Melillo; Irene Perea-Romero; Valentina Di Iorio; Giulia Risca; Clemente Maria Iodice; Ronald J. E. Pennings; Marianthi Karali; Sandro Banfi; Alberto Auricchio; Stefania Galimberti; Carmen Ayuso; Francesca Simonelli
TAGS: cohort studies, disease progression, european continental ancestry group, gene therapy, prospective studies, usher syndrome, eye
Invest. Ophthalmol. Vis. Sci.. 2024; 65(6):25. https://doi.org/10.1167/iovs.65.6.25

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

Multicentric longitudinal prospective study in Usher Syndrome due to MYO7A mutations: disease course and implications for gene therapy

Clemente Maria Iodice; Ester Carreño; L. Ingeborgh van den Born; Paolo Melillo; Irene Perea-Romero; Valentina Di Iorio; Giulia Risca; Ronald J.E. Pennings; Marianthi Karali; Sandro Banfi; Alberto Auricchio; Stefania Galimberti; Francesco Testa; Carmen Ayuso; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2136.

ARVO Annual Meeting Abstract June 2024

Cystoid Macular Edema in Patients with Retinitis Pigmentosa and its Genetic Association

Danila Pisani; Marianthi Karali; Valentina Di Iorio; Lorenzo Cantile; Emanuele Madonna; Antonio Niccolò; Raffaella Colucci; Antonella De Benedictis; Paolo Melillo; Francesco Testa; Sandro Banfi; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3116.

ARVO Annual Meeting Abstract June 2024

Early Onset Macular Drusen associated to rare variants in CFH-gene

Luciana Damiano; Marianthi Karali; Clemente Maria Iodice; Danila Pisani; Valentina Di Iorio; Anna Nesti; Paolo Melillo; Francesco Testa; Sandro Banfi; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4436.

ARVO Annual Meeting Abstract June 2024

Chorioretinal atrophy after treatment with Voretigene Neparvovec in clinical practice

Michele Della Corte; Paolo Melillo; Clemente Maria Iodice; Valentina Di Iorio; Danila Pisani; Amelia Citro; Settimio Rossi; Marianthi Karali; Francesco Testa; Sandro Banfi; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):910.

ARVO Annual Meeting Abstract June 2023

Curcuma Longa and Boswellia Serrata Oral Administration in patients with Treatment-Naïve Diabetic Macular Edema

CLAUDIO IOVINO; Valentina Di Iorio; Andrea Attilio Rosolia; Irene Schiavetti; Michele Lanza; Francesco Testa; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2686.

ARVO Annual Meeting Abstract June 2023

Analysis of choriocapillaris vascular density changes in patients with retinitis pigmentosa caused by RPGR gene mutations

Ernesto Marano; Carlo Gesualdo; Antonio Del Giudice; Francesco Guarino; Paolo Melillo; Settimio Rossi; Francesco Testa; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4650.

ARVO Annual Meeting Abstract June 2023

Anatomic and functional retinal changes in female carriers of pathogenic variants in RPGR gene

Valentina Di Iorio; Luciana Damiano; Raffaella Colucci; Antonio Del Giudice; Carlo Gesualdo; Paolo Melillo; Francesco Testa; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4666.

ARVO Annual Meeting Abstract June 2023

Clinical findings in Retinitis Pigmentosa related to CNGB1 variants

Andrea Attilio Rosolia; Valentina Di Iorio; Marianthi Karali; Anna Nesti; Paolo Melillo; Francesco Testa; Sandro Banfi; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4665.

ARVO Annual Meeting Abstract June 2023

Longitudinal natural history study of dominant retinitis pigmentosa due to RHO gene mutations

Clemente Maria Iodice; Valentina Di Iorio; Antonella De Benedictis; Gabriella Esposito; Marianthi Karali; Paolo Melillo; Francesco Testa; Sandro Banfi; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4652.

ARVO Annual Meeting Abstract June 2023

Chromatic pupillometry as an objective outcome to evaluate effects of Voretigene Neparvovec treatment in patients with RPE65 -related inherited retinal dystrophies

Francesco Testa; Paolo Melillo; Valentina Di Iorio; Amelia Citro; Settimio Rossi; MIchele Della Corte; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5445.

Retina February 2022

RPE65 -Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study

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Francesco Testa; Vittoria Murro; Sabrina Signorini; Leonardo Colombo; Giancarlo Iarossi; Francesco Parmeggiani; Benedetto Falsini; Anna Paola Salvetti; Raffaella Brunetti-Pierri; Giorgia Aprile; Chiara Bertone; Agnese Suppiej; Francesco Romano; Marianthi Karali; Simone Donati; Paolo Melillo; Andrea Sodi; Luciano Quaranta; Luca Rossetti; Luca Buzzonetti; Marzio Chizzolini; Stanislao Rizzo; Giovanni Staurenghi; Sandro Banfi; Claudio Azzolini; Francesca Simonelli
TAGS: italian, rpe65 protein, cohort studies, retinal diseases, natural history, italy
Invest. Ophthalmol. Vis. Sci.. 2022; 63(2):13. https://doi.org/10.1167/iovs.63.2.13

Special Issue September 2021

Voretigene Neparvovec Gene Therapy in Clinical Practice: Treatment of the First Two Italian Pediatric Patients

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Francesco Testa; Paolo Melillo; Michele Della Corte; Valentina Di Iorio; Raffaella Brunetti-Pierri; Amelia Citro; Maurizio Ferrara; Marianthi Karali; Rosa Annibale; Sandro Banfi; Settimio Rossi; Francesca Simonelli

Trans. Vis. Sci. Tech.. 2021; 10(10):11. https://doi.org/10.1167/tvst.10.10.11

Retina July 2021

Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study

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Francesco Testa; Andrea Sodi; Sabrina Signorini; Valentina Di Iorio; Vittoria Murro; Raffaella Brunetti-Pierri; Enza Maria Valente; Marianthi Karali; Paolo Melillo; Sandro Banfi; Francesca Simonelli
TAGS: cohort studies, genes, longitudinal studies, mutation, phenotype, severity of illness, pathologic nystagmus, introns, genotype, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2021; 62(9):1. https://doi.org/10.1167/iovs.62.9.1

Articles June 2021

Correlation Between Choriocapillaris Density and Retinal Sensitivity in Age-Related Macular Degeneration

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Luigi Di Perna; Paolo Melillo; Carlo Gesualdo; Filomena Palmieri; Francesco Testa; Mario Bifani; Settimio Rossi; Francesca Simonelli
TAGS: age-related macular degeneration, chief complaint, eye, drusen, perfusion
Trans. Vis. Sci. Tech.. 2021; 10(7):2. https://doi.org/10.1167/tvst.10.7.2

Retina December 2020

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations

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Valentina Di Iorio; Marianthi Karali; Paolo Melillo; Francesco Testa; Raffaella Brunetti-Pierri; Francesco Musacchia; Christel Condroyer; John Neidhardt; Isabelle Audo; Christina Zeitz; Sandro Banfi; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2020; 61(14):36. https://doi.org/10.1167/iovs.61.14.36

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Baseline characteristics of patients with Usher Syndrome due to MYO7A mutations enrolled in a prospective natural history study

Francesco Testa; Ester Carreño; Koen Vermeer; Valentina Di lorio; Belen Jimenez-Rolando; Marianthi Karali; Blanca Garcia Sandoval; Irene Perea Romero; José Millán Salvador; Paolo Melillo; Sandro Banfi; Alberto Auricchio; L. Ingeborgh van den Born; Carmen Ayuso; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1905.

ARVO Annual Meeting Abstract June 2020

Two cases with Fundus albipunctatus due to mutations in RPE65 gene

Valentina Di lorio; Raffaella Brunetti-Pierri; Marianthi Karali; Fabio Calzolaio; Chiara Malafronte; Antonella De Benedictis; Sandro Banfi; Francesco Testa; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3044.

ARVO Annual Meeting Abstract June 2020

Pericentral Retinitis Pigmentosa is associated with a high prevalence of USH2A pathogenic variants in an Italian cohort of patients

Raffaella Brunetti-Pierri; Paolo Melillo; Valentina Di lorio; Marianthi Karali; Chiara Angeli; anna nesti; Maria Rosaria Barillari; Sandro Banfi; Francesco Testa; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3045.

Articles May 2020

Biofeedback Rehabilitation and Visual Cortex Response in Stargardt's Disease: A Randomized Controlled Trial

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Paolo Melillo; Anna Prinster; Valentina Di Iorio; Gaia Olivo; Francesco Maria D'Alterio; Sirio Cocozza; Mario Quarantelli; Francesco Testa; Arturo Brunetti; Francesca Simonelli
TAGS: biofeedback (psychology), functional magnetic resonance imaging, randomized controlled trial, rehabilitation, stargardt's disease, visual cortex, vision, reading (activity), eye
Trans. Vis. Sci. Tech.. 2020; 9(6):6. https://doi.org/10.1167/tvst.9.6.6

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Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy

Multicentric longitudinal prospective study in Usher Syndrome due to MYO7A mutations: disease course and implications for gene therapy

Cystoid Macular Edema in Patients with Retinitis Pigmentosa and its Genetic Association

Early Onset Macular Drusen associated to rare variants in CFH-gene

Chorioretinal atrophy after treatment with Voretigene Neparvovec in clinical practice

Curcuma Longa and Boswellia Serrata Oral Administration in patients with Treatment-Naïve Diabetic Macular Edema

Analysis of choriocapillaris vascular density changes in patients with retinitis pigmentosa caused by RPGR gene mutations

Anatomic and functional retinal changes in female carriers of pathogenic variants in RPGR gene

Clinical findings in Retinitis Pigmentosa related to CNGB1 variants

Longitudinal natural history study of dominant retinitis pigmentosa due to RHO gene mutations

Chromatic pupillometry as an objective outcome to evaluate effects of Voretigene Neparvovec treatment in patients with RPE65 -related inherited retinal dystrophies

RPE65 -Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study

Voretigene Neparvovec Gene Therapy in Clinical Practice: Treatment of the First Two Italian Pediatric Patients

Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study

Correlation Between Choriocapillaris Density and Retinal Sensitivity in Age-Related Macular Degeneration

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations

Baseline characteristics of patients with Usher Syndrome due to MYO7A mutations enrolled in a prospective natural history study

Two cases with Fundus albipunctatus due to mutations in RPE65 gene

Pericentral Retinitis Pigmentosa is associated with a high prevalence of USH2A pathogenic variants in an Italian cohort of patients

Biofeedback Rehabilitation and Visual Cortex Response in Stargardt's Disease: A Randomized Controlled Trial

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