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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. doi: 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. doi:

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. doi:

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. doi:

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. doi: https://doi.org/10.1167/tvst.9.6.6

ARVO Annual Meeting Abstract July 2019

Chromatic Pupillometry for Screening and Monitoring of Retinitis Pigmentosa

Paolo Melillo; Antonella De Benedictis; Edoardo Villani; Maria Concetta Ferraro; Ernesto Iadanza; Monica Gherardelli; Francesco Testa; Sandro Banfi; Paolo Nucci; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4513. doi:

ARVO Annual Meeting Abstract July 2019

A novel mutation in PEX1 gene causes an Usher-like Syndrome with early onset of Retinitis Pigmentosa and Sensorineural Hearing Loss

Maria Rosaria Barillari; Raffaella Brunetti-Pierri; Valentina Di lorio; Antonella De Benedictis; Anna Nesti; Paolo Melillo; Nicola Angelillo; Gerarda Cappuccio; Nicola Brunetti-Pierri; Umberto Barillari; Sandro Banfi; Francesco Testa; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4492. doi:

ARVO Annual Meeting Abstract July 2019

Evaluation of patients with Stargardt disease by Microperimetry and Fundus Autofluorescence: identification of a new biomarker in defining the natural history of disease

Valentina Di lorio; Ada Orrico; Raffaella Brunetti-Pierri; Mariaelena Filippelli; Paolo Melillo; Anna Nesti; Settimio Rossi; Alberto Auricchio; Francesca Simonelli; Francesco Testa

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5036. doi:

ARVO Annual Meeting Abstract July 2019

Somatic or germline ABCA4 editing to generate a pig model of Stargardt disease type 1

Ivana Trapani; Andrea Perota; Paola Tiberi; Linda Colecchi; Irina Lagutina; Roberto Duchi; Giovanna Lazzari; Carlo Gesualdo; Settimio Rossi; Francesco Testa; Francesca Simonelli; Alberto Auricchio; Cesare Galli

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4230. doi:

Retina April 2019

CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia

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Valentina Di Iorio; Gabriella Esposito; Francesca De Falco; Rosa Boccia; Tiziana Fioretti; Raffaella Colucci; Giuseppe De Rosa; Paolo Melillo; Francesco Salvatore; Francesca Simonelli; Francesco Testa
TAGS: choroideremia, genotype, phenotype, vision
Invest. Ophthalmol. Vis. Sci.. 2019; 60(5):1547-1555. doi: https://doi.org/10.1167/iovs.18-25501

Visual Neuroscience March 2018

Visual Cortex Activation in Patients With Stargardt Disease

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Paolo Melillo; Anna Prinster; Valentina Di Iorio; Gaia Olivo; Francesco Maria D'Alterio; Sirio Cocozza; Ada Orrico; Mario Quarantelli; Francesco Testa; Arturo Brunetti; Francesca Simonelli
TAGS: electroretinography, functional magnetic resonance imaging, stargardt's disease, visual cortex, primary visual cortex, eye
Invest. Ophthalmol. Vis. Sci.. 2018; 59(3):1503-1511. doi: https://doi.org/10.1167/iovs.17-22900

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

The effects of oral carbonic anhydrase inhibitors in patients affected by X-linked Retinoschisis

Francesco Testa; Beatrice Gallo; Mario Marchese; Valentina Di lorio; Anna Nesti; Michele Della Corte; Paolo Melillo; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4643. doi:

ARVO Annual Meeting Abstract June 2017

CLINICAL AND GENETIC EVALUATION IN A COHORT OF PEDIATRIC PATIENTS WITH INHERITED RETINAL DYSTROPHIES

Raffaella Brunetti-Pierri; Mariaelena Filippelli; Francesco Testa; Valentina Di lorio; Giuseppina Di Fruscio; Vincenzo Nigro; Mariateresa Pizzo; Nicola Brunetti-Pierri; Sandro Banfi; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3225. doi:

ARVO Annual Meeting Abstract June 2017

Genotype-phenotype correlations in patients with Usher syndrome type 2 harboring mutations in USH2A and ADGRV1

Marko Hawlina; Ana Fakin; Crystel Bonnet; Anne Kurtenbach; Saddek Mohand-Said; Ditta Zobor; Martina Jarc-Vidmar; Katarina Stingl; Francesco Testa; Francesca Simonelli; José Alain sahel; Isabelle S Audo; Eberhart Zrenner; Christine Petit

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3227. doi:

ARVO Annual Meeting Abstract June 2017

Correlation between visual cortex activation and macular parameters in patients with Stargardt disease.

Francesco Maria D'Alterio; Paolo Melillo; Michele Della Corte; Gaia Olivo; Sirio Cocozza; Anna Prinster; Arturo Brunetti; Mario Quarantelli; Francesco Testa; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4645. doi:

ARVO Annual Meeting Abstract June 2017

A natural history study to explore genotype / phenotype correlations in Stargardt disease

Valentina Di lorio; Ada Orrico; Paolo Melillo; Francesco Testa; Michele Della Corte; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4646. doi:

ARVO Annual Meeting Abstract September 2016

Clinical phenotype and progression of Usher syndrome related to mutations in MYO7A or USH2A

Francesco Testa; Raffaella Colucci; Antonella De Benedictis; Vincenzo Marcelli; Elio Marciano; Alberto Auricchio; Anne Kurtenbach; Christine Petit; Crystel Bonnet; Eberhart Zrenner; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):151. doi:

ARVO Annual Meeting Abstract September 2016

A new syndromic form of retinal degeneration due to mutations in the PCYT1A gene

Mariaelena Filippelli; Rosa Boccia; Raffaella Colucci; Valentina Di Iorio; Anna Nesti; Maria Rosaria Barillari; Nicola Brunetti Pierri; Francesco Testa; Sandro Banfi; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):128. doi:

ARVO Annual Meeting Abstract September 2016

Clinical presentation and disease course in Choroideremia patients

Raffaella Colucci; Rosa Boccia; Valentina Di Iorio; Ada Orrico; Paolo Melillo; Settimio Rossi; Michele Della Corte; Francesco Testa; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):159. doi:

ARVO Annual Meeting Abstract September 2016

Activation of melanocortin receptors Mc1 and Mc5 attenuates retinal damage in experimental diabetic retinopathy.

Luigi Di Perna; Carlo Gesualdo; Rosa Maisto; Clara Di Filippo; Mauro Perretti; Francesco Testa; Settimio Rossi; Michele D'amico; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):99. doi:

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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

Chromatic Pupillometry for Screening and Monitoring of Retinitis Pigmentosa

A novel mutation in PEX1 gene causes an Usher-like Syndrome with early onset of Retinitis Pigmentosa and Sensorineural Hearing Loss

Evaluation of patients with Stargardt disease by Microperimetry and Fundus Autofluorescence: identification of a new biomarker in defining the natural history of disease

Somatic or germline ABCA4 editing to generate a pig model of Stargardt disease type 1

CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia

Visual Cortex Activation in Patients With Stargardt Disease

The effects of oral carbonic anhydrase inhibitors in patients affected by X-linked Retinoschisis

CLINICAL AND GENETIC EVALUATION IN A COHORT OF PEDIATRIC PATIENTS WITH INHERITED RETINAL DYSTROPHIES

Genotype-phenotype correlations in patients with Usher syndrome type 2 harboring mutations in USH2A and ADGRV1

Correlation between visual cortex activation and macular parameters in patients with Stargardt disease.

A natural history study to explore genotype / phenotype correlations in Stargardt disease

Clinical phenotype and progression of Usher syndrome related to mutations in MYO7A or USH2A

A new syndromic form of retinal degeneration due to mutations in the PCYT1A gene

Clinical presentation and disease course in Choroideremia patients

Activation of melanocortin receptors Mc1 and Mc5 attenuates retinal damage in experimental diabetic retinopathy.

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