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Meeting Abstract (6)
Journal Articles (4)

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Investigative Ophthalmology & Visual Science (9)
Translational Vision Science & Technology (1)

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ARVO Annual Meeting Abstract (6)
Retina (3)
Special Issue (1)

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Genetics (2)
Retina (2)
Clinical and Epidemiologic Research (1)
Eye Anatomy and Disorders (1)
Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology (1)
Imaging (1)
Low Vision (1)
Retinal Imaging (1)

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cohort studies (2)
electroretinography (1)
genes (1)
genotype (1)
introns (1)
italian (1)
italy (1)
longitudinal studies (1)
mutation (1)
natural history (1)

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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

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

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.

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.

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.

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.

ARVO Annual Meeting Abstract September 2016

Prevalence of macular abnormalities assessed by Optical Coherence Tomography in patients with Usher Syndrome

Beatrice Gallo; Raffaella Colucci; Antonella De Benedictis; Raffaella Brunetti-Pierri; Paolo Melillo; Settimio Rossi; Francesco Testa; Claudio Azzolini; Michele Della Corte; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):4071.

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Online ISSN: 2164-2591

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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