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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:

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 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

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 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:

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