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FRIDAY 20 OCTOBER 2017 9:30 Registration 10:30 Opening Remarks Session 1 Existent and new European collaborations for rare ocular diseases: ERDC and ERN-EYE Session Chairs: G. Andria, E. Campos Moderators: G. Esposito, P. De Rosa, G. Limongelli 11:00 European Reference Network for better care of patients with rare ocular diseases H. Dollfus 11:20 The Role of Clinical Ophthalmologists within the ERN - EYE B. Leroy 11:40 The European Retinal Disease Consortium: increasing research impact for rare retinal diseases by sharing candidate genes and patient resources F. Cremers 12:00 The establishment of national and international collaborative networks for the study of rare eye diseases. Example of the Spanish network C. Ayuso 12:20 The Role of patient associations within the ERN - EYE C. Fasser 12:30 Discussion 13:00 LUNCH SATURDAY 21 OCTOBER 2017 Session 3 Retinitis Pigmentosa and Leber Congenital Amaurosis: from diagnosis to experimental therapy Session Chairs: G. B. Capasso, G. Staurenghi Moderators: C. Marchese, C. Santillo 9:00 Advances in the clinical diagnosis of peripheral retinal degenerations B. Lorenz 9:20 Treating Retinitis Pigmentosa with synthetic and endogenous transcription factors E. Surace 9:40 Gene Therapy for Retinitis Pigmentosa due to mutations in RPGR gene A. Salvetti 10:00 Gene Therapy for Leber Congenital Amaurosis due to mutations in CEP290 gene R. Collin 10:20 Gene Therapy for Leber Congenital Amaurosis due to mutations in RPE65 gene: the results of phase III clinical trial J. Bennett 10:40 Discussion 10:50 COFFEE BREAK Session 4 Toward novel medical devices for inherited retinal diseases Session chairs: T. Avitabile, F. Salvatore Moderators: R. di Lauro, N. Rosa 11:20 Electronic medical records to support management of patients suffering from inherited retinal diseases C. Azzolini 11:35 Chromatic pupillometry to improve early diagnosis of inherited retinal diseases P. Melillo 11:50 Image analysis to support diagnosis of inherited retinal diseases and color vision D. Riccio 12:05 Retinal Prosthesis for improving visual function in patients with Retinitis Pigmentosa S. Rizzo 12:20 Close to the physiology of vision: neuro-stimulation devices E. Zrenner 12:35 Discussion 13:00 LUNCH Session 5 Macular diseases: from diagnosis to experimental therapy Session Chairs: V. Marigo , E. Midena Moderators: R. Caputo, M. Della Corte, V. Nigro 14:00 Inherited macular dystrophies: recent advances in clinical diagnostics C. Hoyng 14:20 Gene Therapy for Stargardt disease with Lentivirus I. Audo 14:40 Gene Therapy for Stargardt disease using dual AAV vectors A. Auricchio 15:00 Gene Therapy for Age-related Macular Degeneration E. Rakoczy 15:20 Discussion Session 6 Innovations from industry Session Chairs: B. Falsini , G. Pertile Moderators: O. Gallo, V. Orfeo, S. Rossi 15:30 Clinical trials in gene therapy and market access - the industry perspective D. Chung 15:40 Idebenone for treatment of patients with Leber’s Hereditary Optic Neuropathy A. M. De Negri 15:50 Cenegermin: from the approval of therapy for neurotrophic keratitis to future indications F. Mantelli 16:00 The effect of transepithelial electrical stimulation on visual functions of RP patients E. Zrenner 16:10 Discussion Session 7 Talking with patients Session Chairs: F. Simonelli , F. Torricelli 16:20 The organization of rare eye disease patient associations in Italy Retina Italia A. Andrao 16:25 Associazione Italiana Sindrome di Stargardt E. Paone 16:30 Discussant: L. Colombo, B. Falsini, M. P. Manitto, U. Procoli, A. Sodi, F. Testa 17:00 Closing remarks Session 2 Towards a National Network of services for Italian patients with inherited eye diseases Session Chairs: F. Simonelli, F. Torricelli Moderators: G. Manzi, M. Melone, M. Motta Presentation of Italian HCP members in ERN-EYE 14:00 IRCCS Ospedale Pediatrico Bambino Gesù (Lazio) L. Buzzonetti - G. Iarossi 14:20 AOU Careggi (Toscana) E. Pelo - A. Sodi 14:40 PO Camposanpiero - AOU Padova (Veneto) F. Parmeggiani - A. Suppiej 15:00 AOU Università degli Studi della Campania Luigi Vanvitelli (Campania) S. Banfi - F. Testa 15:20 Discussant: L. Colombo, B. Falsini, M. P. Manitto, U. Procoli, E. M. Vingolo 15:45 Presentation of atypical cases of inherited eye diseases 16:15 Communication of the disease to patients with visual impairment P. Gritti 16:30 Renato Musto Award

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FRIDAY 20 OCTOBER 2017

9:30 Registration

10:30 Opening Remarks

Session 1 Existent and new European collaborations for rareocular diseases: ERDC and ERN-EYE Session Chairs: G. Andria, E. Campos Moderators: G. Esposito, P. De Rosa, G. Limongelli

11:00 European Reference Network for better care of patients with rare ocular diseases H. Dollfus

11:20 The Role of Clinical Ophthalmologists within the ERN - EYE B. Leroy

11:40 The European Retinal Disease Consortium: increasing research impact for rare retinal diseases by sharing candidate genes and patient resources F. Cremers

12:00 The establishment of national and international collaborative networks for the study of rare eye diseases. Example of the Spanish network C. Ayuso

12:20 The Role of patient associations within the ERN - EYE C. Fasser

12:30 Discussion

13:00 LUNCH

SATURDAY 21 OCTOBER 2017

Session 3 Retinitis Pigmentosa and Leber Congenital Amaurosis:from diagnosis to experimental therapySession Chairs: G. B. Capasso, G. Staurenghi Moderators: C. Marchese, C. Santillo

9:00 Advances in the clinical diagnosis of peripheral retinal degenerations B. Lorenz 9:20 Treating Retinitis Pigmentosa with synthetic and endogenous transcription factors E. Surace 9:40 Gene Therapy for Retinitis Pigmentosa due to mutations in RPGR gene A. Salvetti 10:00 Gene Therapy for Leber Congenital Amaurosis due to mutations in CEP290 gene R. Collin 10:20 Gene Therapy for Leber Congenital Amaurosis due to mutations in RPE65 gene: the results of phase III clinical trial J. Bennett

10:40 Discussion

10:50 COFFEE BREAK

Session 4 Toward novel medical devices for inheritedretinal diseasesSession chairs: T. Avitabile, F. Salvatore Moderators: R. di Lauro, N. Rosa

11:20 Electronic medical records to support management of patients suffering from inherited retinal diseases C. Azzolini 11:35 Chromatic pupillometry to improve early diagnosis of inherited retinal diseases P. Melillo 11:50 Image analysis to support diagnosis of inherited retinal diseases and color vision D. Riccio 12:05 Retinal Prosthesis for improving visual function in patients with Retinitis Pigmentosa S. Rizzo12:20 Close to the physiology of vision: neuro-stimulation devices E. Zrenner

12:35 Discussion

13:00 LUNCH

Session 5 Macular diseases: from diagnosis to experimentaltherapy Session Chairs: V. Marigo , E. Midena Moderators: R. Caputo, M. Della Corte, V. Nigro

14:00 Inherited macular dystrophies: recent advances in clinical diagnostics C. Hoyng 14:20 Gene Therapy for Stargardt disease with Lentivirus I. Audo 14:40 Gene Therapy for Stargardt disease using dual AAV vectors A. Auricchio 15:00 Gene Therapy for Age-related Macular Degeneration E. Rakoczy 15:20 Discussion

Session 6 Innovations from industry Session Chairs: B. Falsini , G. Pertile Moderators: O. Gallo, V. Orfeo, S. Rossi

15:30 Clinical trials in gene therapy and market access - the industry perspective D. Chung 15:40 Idebenone for treatment of patients with Leber’s Hereditary Optic Neuropathy A. M. De Negri 15:50 Cenegermin: from the approval of therapy for neurotrophic keratitis to future indications F. Mantelli 16:00 The effect of transepithelial electrical stimulation on visual functions of RP patients E. Zrenner 16:10 Discussion

Session 7 Talking with patient s Session Chairs: F. Simonelli , F. Torricelli

16:20 The organization of rare eye disease patient associations in Italy Retina Italia A. Andrao16:25 Associazione Italiana Sindrome di Stargardt E. Paone16:30 Discussant: L. Colombo, B. Falsini, M. P. Manitto, U. Procoli, A. Sodi, F. Testa17:00 Closing remarks

Session 2 Towards a National Network of services for Italianpatients with inherited eye diseasesSession Chairs: F. Simonelli, F. Torricelli Moderators: G. Manzi, M. Melone, M. Motta

Presentation of Italian HCP members in ERN-EYE

14:00 IRCCS Ospedale Pediatrico Bambino Gesù (Lazio) L. Buzzonetti - G. Iarossi

14:20 AOU Careggi (Toscana) E. Pelo - A. Sodi

14:40 PO Camposanpiero - AOU Padova (Veneto) F. Parmeggiani - A. Suppiej

15:00 AOU Università degli Studi della Campania Luigi Vanvitelli (Campania) S. Banfi - F. Testa

15:20 Discussant: L. Colombo, B. Falsini, M. P. Manitto, U. Procoli, E. M. Vingolo

15:45 Presentation of atypical cases of inherited eye diseases

16:15 Communication of the disease to patients with visual impairment P. Gritti

16:30 Renato Musto Award

VII Congresso della Società Italiana

di Oftalmologia Genetica ( SIOG)

Congress Chair Prof.ssa Francesca Simonelli

NAPOLI20/21 Ottobre 2017

Centro Congressi Federico IISan Marcellino

Rare Ocular Diseases: European Network and

New Therapeutic Strategies

INFORMAZIONI GENERALI

SEDE DEL CONVEGNOCentro Congressi Federico II - San MarcellinoLargo San Marcellino, Napoli. Si consiglia di raggiungere il Centro Congressi con mezzi pubblici in quanto è ubicato in una zona a traffico limitato e non dispone di area parcheggi. Il Centro è ben collegato attraverso Metro fermata “Università”, Funicolare fermata “Montesanto”, Cumana fermata“Montesanto”.

MODALITÀ DI ISCRIZIONEL’iscrizione al Congresso va effettuata compilando in tutte le sue parti la scheda on line al sito:http://www.studiocongress.it/iscrizione_siog.html

COSTO DELL’ISCRIZIONE Medici entro il 30 settembre € 240.00 dal 30 settembre € 280.00Ortottisti entro il 30 settembre € 110.00 dal 30 settembre € 150.00

CREDITI ECMÈ stata richiesta al Ministero della Sanità l’attribuzione dei crediti formativi previsti dal programma E.C.M. (Educazione Continua in Medicina) per oftalmologi, ortottisti e genetisti.Provider: Progetto Ippocrate n.1375L’evento ha ottenuto n. 7,7 crediti formativi.

LINGUA UFFICIALE Le lingue ufficiali del Congresso sono l’italiano e l’inglese, ma sarà prevista la traduzione simultanea.

PRENOTAZIONI ALBERGHIEREPer prenotazioni alberghiere contattare la Segreteria Organizzativa.

SCIENTIFIC SECRETARIAT Valentina Di Iorio: [email protected]

Ada Orrico: [email protected] Settimio Rossi: [email protected]

ORGANIZING SECRETARIAT

Via dei Mille, 16 - 80121 NapoliTel. 081 18891223 • Fax 081 18891224 – e-mail: [email protected]

Web Site: http://www.studiocongress.it/congressi-in-corso.html

GENERAL INFORMATION

CONFERENCE VENUECentro Congressi Federico II - San MarcellinoLargo San Marcellino, Naples.Being the Conference Center located in a restricted traffic zone and without parking areas, we recommend to reach it by public transportation. The Conference Center can be easily reached by Metro - subway - ( Università station), by Funicolare - funicular - (Montesanto station), Cumana train (Montesanto station).

REGISTRATION METHODYou can register to the Conference by filling in the form you can find at: www.studiocongress.it/

REGISTRATION FEESMD: no later than September 30th € 240.00 After September 30th € 280.00 Orthoptist: no later than September 30th € 110.00 After September 30th € 150.00

CME CREDITSWe applied for CME accreditation by the Italian Ministry of Health for the events indicated in the program for ophthalmologists, orthoptists, geneticists. Provider: Progetto Ippocrate n.1357The Congress was granted n. 7,7 CME credits.

OFFICIAL LANGUAGEItalian and English are the official languages of the meeting, but simultaneous translation will be provided.

HOTEL BOOKINGTo book your hotel room please contanct the organizational secretariat.

with the contribution of

ALCONALFA INTESALLERGAN

BAYERBIOPTIKA

ELLEGI MEDICALMEDINOVANOVARTIS

OTTICA SACCOSANTHERA

SIFISOOFT ITALIA Fidia Pharma Group

THEA FARMAVISUFARMA

under the patronage of

FACULTY MEMBERS

A. Andrao Milano

G. Andria Napoli I. Audo Paris

A. Auricchio Napoli T. Avitabile Catania

C. Ayuso Garcia Madrid

C. Azzolini Milano

S. Banfi Napoli J. Bennet Philadelphia

L. Buzzonetti Roma

E. Campos Bologna

G. B. Capasso Napoli R. Caputo Firenze

D. Chung Philadelphia

R. Collin Nimega

L. Colombo Milano

F. Cremers Nimega

A. M. De Negri Roma

P. De Rosa Napoli

M. Della Corte Napoli

R. di Lauro Napoli

H. Dollfus Strasbourg

G. Esposito Napoli B. Falsini Roma

C. Fasser Küsnacht

O. Gallo Napoli

P. Gritti Napoli

C. Hoyng Nijmegen

G. Iarossi Roma

B. Leroy Ghent

G. Limongelli Napoli

B. Lorenz Gieben

M. P. Manitto Milano

F. Mantelli Roma

G. Manzi Napoli

C. A. Marchese Torino

V. Marigo Reggio Emilia

P. Melillo Napoli

M. Melone Napoli E. Midena Padova

M. Motta Castell. di Stabia V. Nigro Napoli V. Orfeo Napoli

E. Paone Caserta

F. Parmeggiani Ferrara

E. Pelo Firenze

G. Pertile Negrar

U. Procoli Bari

E. Rakoczy Murdoch

D. Riccio Napoli

S. Rizzo Firenze

N. Rosa Salerno

S. Rossi Napoli

F. Salvatore Napoli A. Salvetti Oxford

C. Santillo Roma

F. Simonelli Napoli A. Sodi Firenze

G. Staurenghi Milano

A. Suppiej Padova

E. Surace Milano

F. Testa Napoli

F. Torricelli Firenze

E. M. Vingolo Roma

E. Zrenner Tubinga

a special thanks

SOISoc ie tà Of ta lmo log ica I ta l i anaAssociazione Medici Oculisti ItalianiENTE MORALEdal 1869 a difesa della vista