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ARVO Annual Meeting Abstract June 2022

RNA Editing of Israeli Founder Nonsense Mutations causing IRDs using Site-Directed Adenosine Deaminase Acting on RNA

Nina Schneider; Ricky Steinberg; Johanna Valensi; Amit Eylon; Eyal Banin; Erez Levanon; Shay Ben-Aroya; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):58 – A0031. doi:

ARVO Annual Meeting Abstract June 2022

Autosomal dominant retinitis pigmentosa with reduced penetrance due to an intronic mutation in PRPF31

Tamar Ben-Yosef; Tahlil Ali Nasser; Shiri Zayit-Soudry; Eyal Banin; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):136 – A0316. doi:

ARVO Annual Meeting Abstract June 2022

Dual mutational mechanism of the KIZ c.226C>T mutation as the cause of autosomal recessive retinitis pigmentosa

Yogapriya Sundaresan; Maya Ross; Ron Ofri; Eyal Banin; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1599 – A0388. doi:

ARVO Annual Meeting Abstract June 2022

Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily

Dror Sharon; Talya Millo; Jose Antonio Rivera; Alexey Obolensky; Dvorah Marks-Ohana; Enosh Wilhelm; Prakadee Gopalakrish; Menachem Gross; Boris Rosin; Mor Hanany; Anna Maria Tracewska; Ora Schueler-Furman; Susanne Roosing; Eyal Banin

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2623. doi:

ARVO Annual Meeting Abstract June 2022

Relatively Slow Retinal Degeneration Process in a Fam161a Knock-in (KI) Mouse Model for the Human Nonsense Mutation p.Arg 523 *

Prakadeeswari Gopalakrishnan; Chen Matsevich; Eyal Banin; Dror Sharon; Avigail Beryozkin; Alexey Obolensky

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2588 – F0471. doi:

Genetics April 2022

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

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Zelia Corradi; Manar Salameh; Mubeen Khan; Elise Héon; Ketan Mishra; Rebekkah J. Hitti-Malin; Yahya AlSwaiti; Alice Aslanian; Eyal Banin; Brian P. Brooks; Wadih M. Zein; Robert B. Hufnagel; Susanne Roosing; Claire‐Marie Dhaenens; Dror Sharon; Frans P. M. Cremers; Alaa AlTalbishi
TAGS: abca4 gene, introns, mutation, stargardt's disease, proband, rna splicing, exons
Invest. Ophthalmol. Vis. Sci.. 2022; 63(4):20. doi: https://doi.org/10.1167/iovs.63.4.20

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

ABCA4 c.859-25A>G, a frequent Palestinian founder mutation associated with retinal dystrophy, results in multiple splice defects

Manar Salameh; Zelia Corradi; Mubeen Khan; Ajoy Vincent; Elise Heon; Rebekkah Hitti-Malin; Yahya AlSwaiti; Eyal Banin; Claire-Marie Dhaenens; Dror Sharon; Alaa AlTalbishi; Frans P.M. Cremers

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):6. doi:

ARVO Annual Meeting Abstract June 2021

A Deep Intronic Substitution in CNGB3 is One of the Major Causes of Achromatopsia among Jewish Patients

Hamzah Aweidah; Manar Salameh; Claudia Yahalom; Anat Blumenfeld; Michal Macarov; Nicole Weisschuh; Susanne Kohl; Eyal Banin; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):4. doi:

ARVO Annual Meeting Abstract June 2021

The Prevalence of Cystoid Macular Edema in Children with Retinitis Pigmentosa and Leber Congenital Amaurosis

Ravid Ben-Avi; Antonio Rivera; Karen Hendler; Dror Sharon; Eyal Banin; Claudia Yahalom

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3205. doi:

ARVO Annual Meeting Abstract June 2021

Exploring the role of putative cis -regulatory variants within the 5’UTR of the ABCA4 gene in ~6,900 cases with inherited retinal disease

Alfredo Dueñas Rey; Muhammad Imran Khan; Mubeen Khan; Miriam Bauwens; Toon Rosseel; Dror Sharon; Robert K Koenekoop; Gavin Arno; Andrew Webster; Carmel Toomes; Claire-Marie Dhaenens; Frans P.M. Cremers; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1451. doi:

ARVO Annual Meeting Abstract June 2021

Identification and functional analysis of novel deep intronic and structural ABCA4 variants in 876 Stargardt disease cases

Zelia Corradi; Mubeen Khan; Ketan Mishra; Laura Whelan; Rebekkah Hitti-Malin; Stephanie Cornelis; Claire-Marie Dhaenens; G. Jane Farrar; Dror Sharon; Frans P.M. Cremers

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1567. doi:

ARVO Annual Meeting Abstract June 2021

Retinal Degeneration Associated with Mutations in the KIZ Gene

Jose Antonio Rivera; Inbar Erdinst; Asala Onala; Sarah Idan; Aya Shemesh; Dror Sharon; Eyal Banin

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3227. doi:

ARVO Annual Meeting Abstract June 2021

Clinical characterization and genotype-phenotype correlation in RPGRIP1 patients with autosomal recessive early onset retinal degeneration

Avigail Beryozkin; Hamzah Aweidah; Roque Daniel Carrero-Valenzuela; Manar Salameh; Myriam Berman; Oscar Iguzquiza; Samer Khateb; Tamar Ben-Yosef; Dror Sharon; Eyal Banin

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3218. doi:

ARVO Annual Meeting Abstract June 2020

A Drosophila model for a Dehydrodolichyl Diphosphate Synthase (DHDDS) mutation causing Retinitis Pigmentosa in humans

Reut Ifrah; Tal Brandwine; Liliana Mizrahi-Meissonnier; Rachel Zaguri; Tzofia Bialistoky; Vladimir Katanaev; Dror Sharon; Offer Gerlitz; Baruch Minke

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4431. doi:

Review June 2020

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

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Debra A. Thompson; Alessandro Iannaccone; Robin R. Ali; Vadim Y. Arshavsky; Isabelle Audo; James W. B. Bainbridge; Cagri G. Besirli; David G. Birch; Kari E. Branham; Artur V. Cideciyan; Steven P. Daiger; Deniz Dalkara; Jacque L. Duncan; Abigail T. Fahim; John G. Flannery; Roberto Gattegna; John R. Heckenlively; Elise Heon; K. Thiran Jayasundera; Naheed W. Khan; Henry Klassen; Bart P. Leroy; Robert S. Molday; David C. Musch; Mark E. Pennesi; Simon M. Petersen-Jones; Eric A. Pierce; Rajesh C. Rao; Thomas A. Reh; Jose A. Sahel; Dror Sharon; Paul A. Sieving; Enrica Strettoi; Paul Yang; David N. Zacks; The Monaciano Consortium
TAGS: outcome measures, retinal diseases, surrogate endpoints, genetics, vision, natural history, ethics, gene therapy
Trans. Vis. Sci. Tech.. 2020; 9(7):2. doi: https://doi.org/10.1167/tvst.9.7.2

ARVO Annual Meeting Abstract July 2019

Worldwide Carrier Frequency Analysis of Mutations Causing Autosomal Recessive Inherited Retinal Diseases

Mor Hanany; Segev Meyer; Carlo Rivolta; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):407. doi:

ARVO Annual Meeting Abstract July 2019

Allele Frequency Analysis of Variants Reported to cause Autosomal Dominant Retinal Diseases Revealed that 17% of Genes and 9% of Mutations are Unlikely Pathogenic

Dror Sharon; Mor Hanany

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2809. doi:

ARVO Annual Meeting Abstract July 2019

Subretinal and Intravitreal Delivery of the Photoreceptor-Specific AAV2-7m8-hGRK1-GFP Viral Vector in Mice

Chen Matsevich; Deniz Dalkara; Alexey Obolensky; Melissa Desrosiers; Ayala Ejzenberg; Dror Sharon; Eyal Banin; Avigail Beryozkin

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2924. doi:

ARVO Annual Meeting Abstract July 2018

Carrier Frequency Analysis of Mutations Causing Recessive Inherited Retinal Diseases in the Israeli Population

Dror Sharon; Gilad Allon; Adva Kimchi; Anat Blumenfeld; Hadas Newman; Eran Pras; Libe Gradstein; Eyal Banin; Tamar Ben-Yosef; Mor Hanany

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3494. doi:

ARVO Annual Meeting Abstract July 2018

Ataluren-mediated read-through of a nonsense mutation in FAM161A gene which causes retinitis pigmentosa

Avigail Beryozkin; Ananya Samanta; Samer Khateb; Eyal Banin; Dror Sharon; Uwe Wolfrum; Kerstin Nagel-Wolfrum

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5324. doi:

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RNA Editing of Israeli Founder Nonsense Mutations causing IRDs using Site-Directed Adenosine Deaminase Acting on RNA

Autosomal dominant retinitis pigmentosa with reduced penetrance due to an intronic mutation in PRPF31

Dual mutational mechanism of the KIZ c.226C>T mutation as the cause of autosomal recessive retinitis pigmentosa

Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily

Relatively Slow Retinal Degeneration Process in a Fam161a Knock-in (KI) Mouse Model for the Human Nonsense Mutation p.Arg 523 *

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

ABCA4 c.859-25A>G, a frequent Palestinian founder mutation associated with retinal dystrophy, results in multiple splice defects

A Deep Intronic Substitution in CNGB3 is One of the Major Causes of Achromatopsia among Jewish Patients

The Prevalence of Cystoid Macular Edema in Children with Retinitis Pigmentosa and Leber Congenital Amaurosis

Exploring the role of putative cis -regulatory variants within the 5’UTR of the ABCA4 gene in ~6,900 cases with inherited retinal disease

Identification and functional analysis of novel deep intronic and structural ABCA4 variants in 876 Stargardt disease cases

Retinal Degeneration Associated with Mutations in the KIZ Gene

Clinical characterization and genotype-phenotype correlation in RPGRIP1 patients with autosomal recessive early onset retinal degeneration

A Drosophila model for a Dehydrodolichyl Diphosphate Synthase (DHDDS) mutation causing Retinitis Pigmentosa in humans

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

Worldwide Carrier Frequency Analysis of Mutations Causing Autosomal Recessive Inherited Retinal Diseases

Allele Frequency Analysis of Variants Reported to cause Autosomal Dominant Retinal Diseases Revealed that 17% of Genes and 9% of Mutations are Unlikely Pathogenic

Subretinal and Intravitreal Delivery of the Photoreceptor-Specific AAV2-7m8-hGRK1-GFP Viral Vector in Mice

Carrier Frequency Analysis of Mutations Causing Recessive Inherited Retinal Diseases in the Israeli Population

Ataluren-mediated read-through of a nonsense mutation in FAM161A gene which causes retinitis pigmentosa

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