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ARVO Annual Meeting Abstract June 2022

Current management of Inherited Retinal Degenerations (IRD) patients in Europe. Results of a 2 years follow-up multinational survey by EVICR.net and ERN-EYE

Joana Tavares; Birgit Lorenz; Ingeborgh van den Born; João Pedro Marques; Katarina Stingl; Elisabetta Pilotto; Peter Charbel Issa; Dorothee Leroux; Helene Dollfus; Hendrik P Scholl

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4481 – F0268. doi:

ARVO Annual Meeting Abstract June 2022

Efficacy and safety of sepofarsen, an intravitreal RNA antisense oligonucleotide, for the treatment of CEP290 -associated Leber congenital amaurosis (LCA10): a randomized, double-masked, sham-controlled, Phase 3 study (ILLUMINATE)

Bart Peter Leroy; Katarina Stingl; Isabelle S Audo; Camiel J F Boon; Fernanda Belga O Porto; Michel Michaelides; Helene Dollfus; L. Ingeborgh van den Born; Lyubomyr M Lytvynchuk; Francesca Simonelli; Juliana M F Sallum; Robert K Koenekoop; Elise Heon; Stephen R Russell; Michael Schwartz; Aniz Girach

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4536 – F0323. doi:

ARVO Annual Meeting Abstract June 2022

Current management of patients with RPE65 mutation-associated Inherited Retinal Degenerations ( RPE65 -IRD) in Europe. Results of a 2-year follow-up multinational survey by the European Vision Institute Clinical Research Network (EVICR.net) and the European Reference Network for Rare Eye Diseases (ERN-EYE)

Birgit Lorenz; Joana Tavares; Ingeborgh van den Born; João Pedro Marques; Katarina Stingl; Elisabetta Pilotto; Peter Charbel Issa; Dorothee Leroux; Helene Dollfus; Hendrik P Scholl

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4488 – F0275. doi:

Retina December 2021

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

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Monika K. Grudzinska Pechhacker; Samuel G. Jacobson; Arlene V. Drack; Matteo Di Scipio; Ine Strubbe; Wanda Pfeifer; Jacque L. Duncan; Helene Dollfus; Nathalie Goetz; Jean Muller; Andrea L. Vincent; Tomas S. Aleman; Anupreet Tumber; Caroline Van Cauwenbergh; Elfride De Baere; Emma Bedoukian; Bart P. Leroy; Jason T. Maynes; Francis L. Munier; Erika Tavares; Eman Saleh; Ajoy Vincent; Elise Heon
TAGS: natural history, phenotype, retinal degeneration, vision, cohort studies, visual acuity
Invest. Ophthalmol. Vis. Sci.. 2021; 62(15):26. doi: https://doi.org/10.1167/iovs.62.15.26

ARVO Annual Meeting Abstract June 2021

Natural history study of visual function in patients with BBS1- and BBS10 -related retinal degeneration.

Monika Grudzinska Pechhacker; Samuel G Jacobson; Arlene V Drack; Matteo Di Scipio; Ine Stubbe; Jacque L Duncan; Helene Dollfus; Andrea L Vincent; Tomas S Aleman; Bart Leroy; Jason Maynes; Francis Munier; Erika Tavares; Eman Saleh; Ajoy Vincent; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3284. doi:

ARVO Annual Meeting Abstract June 2020

Inherited Retinal Disease (IRD): Online medical education can significantly improve knowledge and confidence for detection in general ophthalmology practice and referral for gene therapy assessment

Siggi Trier; Deborah Middleton; Peter Schoonheim; Jason Comander; Helene Dollfus; Stephen R Russell; Jose Alain Sahel

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3020. doi:

ARVO Annual Meeting Abstract June 2020

Natural history study of visual function in patients with BBS1 and BBS10 -related Bardet-Biedl syndrome.

Monika Grudzinska Pechhacker; Samuel G Jacobson; Ine Strubbe; Jacque L Duncan; Arlene V Drack; Andrea L Vincent; Tomas Aleman; Caroline Van Cauwenbergh; Elfride De Baere; Helene Dollfus; Nathalie Goetz; Bart Peter Leroy; Ajoy Vincent; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4463. doi:

ARVO Annual Meeting Abstract July 2019

Targeted identification of reported deep-intronic variants in ABCA4 in 224 French Stargardt disease cases

Claire-Marie DHAENENS; Mubeen Khan; Aurore Devos; Charlene Piriou; Duaa ELMELIK; Eline Manders; Emeline Goreki; Yaumara Perdomo; Helene Dollfus; Xavier Zanlonghi; Béatrice Bocquet; Isabelle Anne Meunier; Bernard Puech; Sabine defoort; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4930. doi:

ARVO Annual Meeting Abstract July 2019

Mutations in WDR34 is a rare cause of non-syndromic autosomal recessive rod-cone dystrophy

Isabelle S Audo; Maria Solaguren-Beascoa; Kinga Bujakowska; Cécile Méjécase; Lisa Emmengger; Saddek Mohand-Said; Thierry D Leveillard; Eric A Pierce; Helene Dollfus; Jose Alain Sahel; Shomi Bhattacharya; Christina Zeitz

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):381. doi:

ARVO Annual Meeting Abstract June 2017

A mutation in VPS15 (PIK3R4) affects IFT20 cilia trafficking and causes a ciliopathy with early onset retinitis pigmentosa

Helene J Dollfus; Corinne Stoetzel; Séverine Bär; Philippe Hammann; Christelle Etard; Sylvie Friant

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4514. doi:

ARVO Annual Meeting Abstract September 2016

Survey of ophthalmic and systemic features in patients with PNPLA6 -related disorders

Robert B Hufnagel; Sarah Hull; Jose Luiz Pedroso; Shuan Dai; Andrea Nemeth; Helene Dollfus; Brian Patrick Brooks; Robert Sisk; Michel Michaelides; Anthony T Moore; Zubair Ahmed

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6564. doi:

ARVO Annual Meeting Abstract April 2014

Is C8orf37 the eighteenth BBS gene? A case report

Elise Heon; Sophie Qin; Helene Dollfus; Val Sheffield; Edwin M Stone; Gail Billingsley; Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3271. doi:

ARVO Annual Meeting Abstract June 2013

Screening of PRPH2/RDS in patients with autosomal dominant retinitis pigmentosa reveals novel disease-causing mutations and 8.6% prevalence in French population

Gael Manes; Claire-Marie Dhaenens; Werner Vos; Isabelle Audo; Xavier Zanlonghi; Sylvie Odent; Helene Dollfus; Beatrice Bocquet; Isabelle Meunier; Christian Hamel

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):659. doi:

ARVO Annual Meeting Abstract April 2011

Iqcb1 (nphp5) Mutations In Leber Congenital Amaurosis With Very Late Nephronophthisis

Jean-Michel Rozet; Remi Salomon; Nathalie Delphin; Eduardo D. Silva; Helene Dollfus; Christian P. Hamel; Arnold Munnich; Sophie Saunier; Josseline Kaplan; Isabelle Perrault

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5368. doi:

ARVO Annual Meeting Abstract April 2011

Bardet Biedl Syndrome Chaperonin-like Proteins Depletion Induces Photoreceptor Cells Death Due To Endoplasmic Reticulum Stress

Helene Dollfus; Anais Mockel; Dominique Schlicht; Nadia Messaddeq; Vincent Marion

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5414. doi:

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Current management of Inherited Retinal Degenerations (IRD) patients in Europe. Results of a 2 years follow-up multinational survey by EVICR.net and ERN-EYE

Efficacy and safety of sepofarsen, an intravitreal RNA antisense oligonucleotide, for the treatment of CEP290 -associated Leber congenital amaurosis (LCA10): a randomized, double-masked, sham-controlled, Phase 3 study (ILLUMINATE)

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

Natural history study of visual function in patients with BBS1- and BBS10 -related retinal degeneration.

Inherited Retinal Disease (IRD): Online medical education can significantly improve knowledge and confidence for detection in general ophthalmology practice and referral for gene therapy assessment

Natural history study of visual function in patients with BBS1 and BBS10 -related Bardet-Biedl syndrome.

Targeted identification of reported deep-intronic variants in ABCA4 in 224 French Stargardt disease cases

Mutations in WDR34 is a rare cause of non-syndromic autosomal recessive rod-cone dystrophy

A mutation in VPS15 (PIK3R4) affects IFT20 cilia trafficking and causes a ciliopathy with early onset retinitis pigmentosa

Survey of ophthalmic and systemic features in patients with PNPLA6 -related disorders

Is C8orf37 the eighteenth BBS gene? A case report

Screening of PRPH2/RDS in patients with autosomal dominant retinitis pigmentosa reveals novel disease-causing mutations and 8.6% prevalence in French population

Iqcb1 (nphp5) Mutations In Leber Congenital Amaurosis With Very Late Nephronophthisis

Bardet Biedl Syndrome Chaperonin-like Proteins Depletion Induces Photoreceptor Cells Death Due To Endoplasmic Reticulum Stress

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